Estado Nutricional e Indicadores de Estrés Oxidativo entre pacientes con enfermedad renal en etapa terminal. Tratado ambulatorio continuo con dialisis Peritoneal / Nutritional Status and Indicators of Oxidative Stress among End-Stage Renal Disease Patients Treated with Continuous Ambulatory Peritoneal Dialysis

Background: The objective of the study was to determine the oxidative stress (OS) intensity depending on the nutritional status (NS) among end-stage renal disease patients treated with continuous ambulatory peritoneal dialysis (CAPD) and to investigate the effectiveness of medical strategies for the correction of nutritional disorders (ND). Methods: 69 end-stage renal disease patients treated with CAPD were examined who had varying degrees of ND. General clinical, biochemical parameters, OS markers were identified. Basing on the obtained data, the level of OS markers was determined in groups of patients with different NS. Subsequently, patients with moderate and severe ND were randomly assigned to two groups. The first group (n=20) included patients who received in complex treatment additionally to traditional treatment of CAPD Levocarnitine and one exchange per day of intraperitoneal fluid with amino acids. The second group consisted of patients (n=20) who received instead of one Dianeal fluid intraperitoneal fluid with amino acids. Results: OS indicators were increased in all four groups of patients with different NS, but they were the highest among patients with moderate and severe malnutrition. After the treatment the patients of the first study group had a statistically significant decrease in the MDA content, both in blood serum and erythrocytes (p<0.005). At the same time, the analysis of the informative markers dynamics for antioxidant oxidative stress (AOS) of blood serum allowed to register a statistically credible increase in their mean values among patients after treatment (p<0.05). It should be emphasized that no statistically significant effect of Levocarnitine on the anthropometric parameters of nutritional status and serum albumin level was obtained. However, after the therapy in the study group the values of SGA and protein consumption with food increased (p<0.05). At the same time, the patients from second study group had no positive effect on the reduction of oxidative stress, except for the level of transferrin (p<0.05) and contributes to the increase of serum albumin level (p<0.05).

Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy

Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM. The aim of our study was to investigate the effects of L-carnitine on exercise performance in MM. Twelve MM subjects (mean age±SD=35.4±10.8 years) with chronic progressive external ophthalmoplegia (CPEO) were first compared to 10 healthy controls (mean age±SD=29±7.8 years) before they were randomly assigned to receive L-carnitine supplementation (3 g/daily) or placebo in a double-blind crossover design. Clinical status, body composition, respiratory function tests, peripheral muscle strength (isokinetic and isometric torque) and cardiopulmonary exercise tests (incremental to peak exercise and at 70% of maximal), constant work rate (CWR) exercise test, to the limit of tolerance [Tlim]) were assessed after 2 months of L-carnitine/placebo administration. Patients with MM presented with lower mean height, total body weight, fat-free mass, and peripheral muscle strength compared to controls in the pre-test evaluation. After L-carnitine supplementation, the patients with MM significantly improved their Tlim (14±1.9 vs 11±1.4 min) and oxygen consumption ( V ˙ O 2 ) at CWR exercise, both at isotime (1151±115 vs 1049±104 mL/min) and at Tlim (1223±114 vs 1060±108 mL/min). These results indicate that L-carnitine supplementation may improve aerobic capacity and exercise tolerance during high-intensity CWRs in MM patients with CPEO.

Emerging trends in management of propionic acidemia / Tendências emergentes no manejo da academia propiônica

Objetivo : To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA).Materials and methods : The records of PA patients were retrospectively evaluated.Results : The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients were managed with normal saline, ≥ 10% dextrose, and restriction of protein intake. In 56 (40%) admissions, management was done in intensive care unit, 31 (22%) with mechanical ventilation, 10 (7%) with haemodialysis, 16 (11%) with vasopressor agents, and 12 (9%) with insulin. In the rescue procedure, L-carnitine was used in 135 (96%) patients, sodium bicarbonate in 116 (82%), sodium benzoate in 76 (54%), and metronidazole in 10 (7%), biotin in about one-quarter, L-arginine in one third, and antibiotics in three-quarter of the admissions. Blood/packed RBCs were used in 28 (20%) patients, platelets in 26 (18%), fresh frozen plasma in 8 (6%), and granulocyte-colony stimulating factors in 10 (7%) admissions. All patients were managed completely/partially with medical nutrition formula plus amino acid mixture, vitamins and minerals. For long-term management 24 (80%) patients were on L-carnitine, 22 (73%) on sodium benzoate, 6 (20%) on biotin, one half on alkaline therapy and 4 (13%) on regular metronidazole use. Almost all patients were on medical formula and regular follow-up.Conclusion : Aggressive and adequate management of acute metabolic crises with restriction of protein intake, stabilization of patient, reversal of catabolism, and removal of toxic metabolites are essential steps. Concerted efforts to ensure adequate nutrition, to minimize the risk of acute decompensation and additional therapeutic advances are imperative to improve the outcome of PA patients. Arq Bras Endocrinol Metab. 2014;58(3):237-42.

Objetivo : Avaliar os agentes terapêuticos usados durante as crises metabólicas e para o manejo de longo prazo de pacientes com academia propiônica (AP).Materiais e métodos : Avaliação retrospectiva das fichas médicas de pacientes com AP.Resultados : O grupo estudado consistiu de 30 pacientes com 141 hospitalizações. Durante as crises metabólicas, a hiperamonemia foi observada em 130 (92%) pacientes hospitalizados e quase todos foram tratados com solução salina regular, ≥ 10% dextrose e restrição da ingestão de proteína. Em 56 (40%) das hospitalizações, o manejo foi feito na unidade de terapia intensiva, 31(22%) com ventilação mecânica, 10 (7%) com hemodiálise, 16 (11%) com vasopressores e 12 (9%) com insulina. Para o resgate, a L-carnitina foi usada em 135 (96%) pacientes, o bicarbonato de sódio em 116 (82%), o benzoato de sódio em 76 (54%), o metronidazole em 10 (7%), a biotina em cerca de um quarto, a L-arginina em um quarto e antibióticos em três quartos dos pacientes hospitalizados. Sangue/concentrado de hemácias foram usados em 28 (20%), plaquetas em 26 (18%), plasma fresco congelado em 8 (6%) e fatores estimulantes de colônias de granulócitos em 10 (7%) pacientes hospitalizados. Todos os pacientes foram manejados completamente/parcialmente com fórmula de nutrição hospitalar mais uma mistura de aminoácidos, vitaminas e minerais. Para o manejo de longo prazo, 24 (80%) dos pacientes foram tratados com L-carnitina, 22 (73%) com benzoato de sódio, 6 (20%) com biotina, a metade com tratamento alcalino e 4 (13%) com uso regular de metronidazole. Quase todos os pacientes foram tratados com fórmulas médicas e acompanhamento regular.Conclusão : O manejo adequado e agressivo de crises metabólicas com restrição da ingestão de proteína, ...

Hiperamonemia en niños: clasificación y opciones terapéuticas / Hyperammonaemia in children: classification and therapeutic options

La hiperamonemia se presenta en forma secundaria por aumento en la producción de amonio, como en la hemorragia gastrointestinal o disminución de la eliminación, como ocurre en errores innatos del metabolismo, principalmente en aquellos con defectos en el ciclo de la urea, insuficiencia hepática o fármacos. Clasificar la hiperamonemia y reportar las opciones terapéuticas en niños, su abordaje clínico y revisión de la literatura. Estudio prospectivo, descriptivo y transversal de niños con hiperamonemia. Variables: edad, género, etiología, niveles de amonio, clínica, tratamiento. 21 pacientes, 12 (57,12%) varones y 9 (42,88%) hembras. Edad promedio 3,91 años (rango:<1mes-14 años). Amonio promedio general 214,66 mmol/l (rango:110-980), clasificados según severidad: sin insuficiencia hepática 11/21 con promedio de amonio 99,44 y 201 mmol/l en hiperamonemia leve y moderada respectivamente. Clínica y laboratorio de insuficiencia hepática en 10/21 con promedio de amonio de 114,44, 287,51 y 756,66 en leve, moderada y severa hiperamonemia, con una diferencia significativa entre el nivel de amonio y la presencia o ausencia de insuficiencia hepática (p<0,0001); 5/10 con insuficiencia hepática ingresaron a terapia intensiva, 4 de ellos presentaron encefalopatía hepática, un paciente fallecido. Etiología: Error innato del metabolismo 33,33%, toxicidad por medicamentos 23,80%, hepatitis viral A fulminante 19,04% y otros virus 9,52%, hepatitis autoinmune 4,76% y urosepsis 4,76%. En los casos leves-moderados se administró lactulosa dosis respuesta vía oral 19/21 y por enema rectal 7/21 con L-carnitina en 15/21 y en Hiperamonemia severa adicionalmente Benzoato de sodio en 4/21 y hubo indicación de hemodiálisis en 3 pacientes. Restricción proteica en todos, vitaminoterapia y 6 niños tratados con ácido ursodeoxicólico. La hiperamonemia es multifactorial, requiere diagnóstico temprano, la clasificación de severidad permite el tratamiento oportuno para evitar complicaciones....

Hyperammonaemia occurs secondarily by increased production of ammonia, as gastrointestinal bleeding or decreased elimination, as occurs in inborn errors of metabolism, especially in those with defects in the urea cycle, liver failure or drugs. To classify the report hyperammonaemia and therapeutic options in children, its clinical approach and review of the literature. Prospective, descriptive and transversal children with hyperammonaemia. Variables: age, gender, etiology, ammonia levels, clinical treatment. 21 patients, 12 (57,12%) males and 9 (42,88%) females. Mean age 3,91 years (range: <1m-14a). ammonium 214,66 mmol / l (range :110-980), classified according to severity: no hepatic impairment 11/21 with 99,44 average ammonium and 201 mmol / l in Hyperammoanemia mild and moderate respectively. Clinical and laboratory liver failure 10/21 with ammonium averaging 114,44, 287,51 and 756,66 as mild, moderate and severe hyperammonemia, with a significant difference between the level of ammonia and the presence or absence of liver failure (p < 0,0001), 5/10 with liver failure admitted to intensive care, 4 of them had hepatic encephalopathy, a patient died. Etiology: An inborn error of metabolism 33,33%, 23,80% drug toxicity, fulminant viral hepatitis and other viruses 19,04% 9,52% 4,76% autoimmune hepatitis and urosepsis 4,76%. In mild-moderate cases were given oral lactulose Dose 19/21 and by enema rectal 7/21 with L-carnitine in 15/21 and further severe Hyperammonemia sodium benzoate 4/21 and was indication of hemodialysis in 3 patients. Protein restriction at all, vitamin therapy and 6 children treated with ácidoursodeoxicólico. Hyperammonemia is multifactorial, requires early diagnosis, classification of severity allows early treatment to avoid complications and development of irreversible neurological sequelae

Efficacy and safety of entecavir plus carnitine complex (GODEX(R)) compared to entecavir monotherapy in patient with ALT elevated chronic hepatitis B: randomized, multicenter open-label trials. The GOAL study

BACKGROUND/AIMS: Carnitine and vitamin complex (Godex(R)) is widely used in patients with chronic liver disease who show elevated liver enzyme in South Korea. The purpose of this study is to identify the efficacy and safety of carnitine from entecavir combination therapy in Alanine aminotransferase (ALT) elevated Chronic Hepatitis B (CHB) patients. METHODS: 130 treatment-naive patients with CHB were enrolled from 13 sites. The patients were randomly selected to the entecavir and the complex of entecavir and carnitine. The primary endpoint of the study is ALT normalization level after 12 months. RESULTS: Among the 130 patients, 119 patients completed the study treatment. The ALT normalization at 3 months was 58.9% for the monotherapy and 95.2% for the combination therapy (P<0.0001). ALT normalization rate at 12 months was 85.7% for the monotherapy and 100% for the combination group (P=0.0019). The rate of less than HBV DNA 300 copies/mL at 12 months was not statistically significant (P=0.5318) 75.9% for the monotherapy, 70.7% for the combination and it was. Quantification of HBsAg level was not different from the monotherapy to combination at 12 months. Changes of ELISPOT value to evaluate the INF-gamma secretion by HBsAg showed the increasing trend of combination therapy compare to mono-treatment. CONCLUSIONS: ALT normalization rate was higher in carnitine complex combination group than entecavir group in CHB. Combination group was faster than entecavir mono-treatment group on ALT normalization rate. HBV DNA normalization rate and the serum HBV-DNA level were not changed by carnitine complex treatment.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.

Failure of carnitine in improving hepatic nitrogen content in alcoholic and non-alcoholic malnourished rats

AIMS: To investigate the effect of carnitine supplementation on alcoholic malnourished rats' hepatic nitrogen content. METHODS: Malnourished rats, on 50 percent protein-calorie restriction with free access to water (malnutrition group) and malnourished rats under the same conditions with free access to a 20 percent alcohol/water solution (alcohol group) were studied. After the undernourishment period (4 weeks with or without alcohol), both groups were randomly divided into two subgroups, one of them nutritionally recovered for 28 days with free access to a normal diet and water (recovery groups) and the other re-fed with free access to diet and water plus carnitine (0.1 g/g body weight/day by gavage) (carnitine groups). No alcohol intake was allowed during the recovery period. RESULTS: The results showed: i) no difference between the alcohol/no alcohol groups, with or without carnitine, regarding body weight gain, diet consumption, urinary nitrogen excretion, plasma free fatty acids, lysine, methionine, and glycine. ii) Liver nitrogen content was highest in the carnitine recovery non-alcoholic group (from 1.7 to 3.3 g/100 g, P<0.05) and lowest in alcoholic animals (about 1.5 g/100g). iii) Hepatic fat content (~10 g/100 g, P>.05) was highest in the alcoholic animals. CONCLUSION: Carnitine supplementation did not induce better nutritional recovery.

Carnitine supplement: Does it worth trial to improve semen quality among infertile Sudanese men?

Carnitine supplement proves to upgrade the quality of semen by increasing sperm count and motility. In this study we have determined the level of L - carnitine in the seminal plasma of men with normal and abnormal seminal analysis. L - carnitine levels among the normal group was significantly higher than the abnormal group. We recommend trials of carnitine supplements to evaluate its usefulness in correcting some infertility cases. Subjects and methods: A total of 52 men; recruited from fertility centers in Khartoum ;were included in this study. Colorimetric carnitine determination kits were used for estimation of L - carnitine in seminal plasma. Results: Collectively; men with normal values of semen analysis had significantly higher mean seminal plasma carnitine levels compared to abnormal values (p = 0.028). Oligospermic men had significantly lower levels of carnitine compared to normal (p = 0.046). Conclusion: Seminal plasma carnitine level seems to correlate with seminal quality and its deficiency may be a reason for infertility among some Sudanese men

Effects of Carnitine on Peripheral Blood Mitochondrial DNA Copy Number and Liver Function in Non-Alcoholic Fatty Liver Disease / 대한소화기학회지

BACKGROUND/AIMS: Functional and anatomical abnormalities of mitochondria play an important role in developing steatohepatitis. Carnitine is essential for enhanced mitochondrial beta oxidation through the transfer of long-chain fatty acids into the mitochondria. We examined the impact of carnitine complex on liver function and peripheral blood mitochondria copy number in NAFLD patients. METHODS: Forty-five NAFLD patients were enrolled. Patients were categorized into the carnitine complex-administered group and control group. Before and 3 months after drug administration, a liver function test and peripheral blood mitochondrial DNA and 8-oxo-dG quantitive analysis were conducted. RESULTS: In carnitine treatment group, ALT, AST, and total bilirubin were reduced after medication. There was no difference in AST, ALT, and total bilirubin between before and after treatment in control group. In carnitine group, peripheral mitochondrial DNA copy number was significantly increased from 158.8+/-69.5 copy to 241.6+/-180.6 copy (p=0.025). While in control group the mitochondrial copy number was slightly reduced from 205.5+/-142.3 to 150.0+/-109.7. 8-oxo-dG level was also tended to decrease in carnitine group (p=0.23) and tended to increase in control group (p=0.07). CONCLUSIONS: In NAFLD, the carnitine improved liver profile and peripheral blood mitochondrial DNA copy number. This results suggest that carnitine activate the mitochondria, thereby contributing to the improvement of NAFLD.

Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico / Glucose transponer type 7 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet: Report of one case

The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44 percent (Normal range 80-100 percent). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatment.

Efecto de la L-Carnitina exógena en niños con estreñimiento crónico / Effect of L-Carnitine supplementation in children with chronic constipation

Se realizó un estudio clínico, prospectivo, doble ciego en 23 niños con estreñimiento crónico, y deficiencia sérica de Carnitina, en el Servicio de Gastroenterología Pediátrica y Nutrición del Hospital de Niños “Dr. Jorge Lizarraga” de Valencia. Fueron distribuidos al azar en dos grupos, Carnitina y Placebo, evaluados cada 15 días por 12 semanas, con relación al hábito intestinal, peso, talla y perímetro braquial izquierdo. Para la determinación de Carnitina sérica se utilizó el método espectofotométrico descrito por Marquis y Fritz. Luego del tratamiento con L-Carnitina o placebo, el grupo Carnitrina presentó un nivel de Carnitrina sérica de 0,0254 mmol/mL y el placebo 0,0210 mmlo/mL y ambos grupos experimentaron mejoría de los movimientos intestinales y consistencias de las heces. El placebo mostró mayor efectividad en la desaparición de la sintomatología asociada al estreñimiento y en la ganancia de peso y talla. La L-Carnitina no manifestó ningún efecto sobre el hábito intestinal, ganancia de peso o talla en los niños con estreñimiento crónico

O papel da L-carnitina no estado nutricional e na evolução ecocardiográfica da cardiomiopatia dilatada idiopática da infância / The role of L-carnitine in nutritional status and echocardiographic parameters in idiopathic dilated cardiomyopathy in children

OBJETIVO: A desnutrição é marcadora independente de óbito na cardiomiopatia dilatada idiopática. Foi analisada a repercussão da introdução da L-carnitina nos parâmetros nutricionais e ecocardiográficos em crianças com cardiomiopatia dilatada idiopática. MÉTODOS: Estudo prospectivo aberto de 11 crianças, comparadas com 40 controles, pareados para sexo e idade. Foi administrada L-carnitina oral (100 mg/kg/dia), além do tratamento padrão. Foram realizadas 118 pesagens no grupo L-carnitina e 264 nos controles, além de 65 ecocardiogramas no grupo L-carnitina e 144 nos controles. Análise estatística: qui-quadrado, teste t de Student, ANOVA e correlação de Pearson. Foi utilizado alfa = 0,05. RESULTADOS: Grupo L-carnitina: idade = 3,82 anos, 72,7 por cento (p = 0,033) menores de 2 anos e do sexo feminino, e 90,9 por cento (p = 0,001) em classe funcional III e IV. Não ocorreram óbitos no período. Não houve diferença no percentil de peso inicial (31,2±8,74 vs. 19,6±21,2) (p = 0,29) nem no índice z (-0,68±1,05 vs. -1,16±0,89) (p = 0,24). Ocorreu aumento do percentil (p = 0,026) e do índice z (p = 0,033) após a L-carnitina. Não houve diferença na fração de ejeção na apresentação (54,9 por cento±3,8 vs. 49,3 por cento±6,6) (p = 0,19), porém a massa VE/SC foi superior no grupo L-carnitina (169,12 g/m²±26,24 vs. 110,67 g/m²±15,62) (p = 0,0005). Após a L-carnitina, a ANOVA demonstrou aumento da fração de ejeção (48,3±7 para 67,2±7) (p = 0,044), e a massa do VE/SC foi reduzida (164,29g/m²±28,14 para 110,88g/m²±28,88), porém sem significância estatística (p = 0,089). CONCLUSÃO: Na cardiomiopatia dilatada idiopática na infância, a suplementação com L-carnitina pode auxiliar na recuperação nutricional e na melhora da fração de ejeção, facilitando a reversão do quadro de caquexia e da insuficiência cardíaca.

Clinical and echocardiographic findings in patients with myocardial toxicity due to scorpion sting.

BACKGROUND: Myocardial toxicity following a sting by the Indian red scorpion (Mesobuthus tamulus) is a life-threatening medical emergency. A perusal of the published literature suggests that this problem has seldom been studied systematically. METHODS: We retrospectively studied the clinical presentation and echocardiographic findings in 24 patients (mean [SD] age 23.2 [11.7] years; 19 males) with myocardial toxicity caused by the sting of an Indian red scorpion (Mesobuthus tamulus). They were treated with inotropic support and diuretics depending on the requirement. At admission, oral L-carnitine was administered in a dose of 1980 mg/day in three divided doses till the left ventricular (LV) function normalized. None of the patients received digitalis, prazosin, hydrocortisone or antivenin. RESULTS: Extreme anxiety and severe pain at the site of sting were present in all the patients. Hypotension (n = 19), pulmonary oedema (n= 15) and acute renal failure (n=8) were the other presenting features. Chest X-ray revealed cardiomegaly in 8 and pulmonary oedema in 13 patients. Serum creatinine phosphokinase levels were elevated more than two times the upper limit of normal (200 IU/L) in 22 patients (92%). The mean duration of hospitalization was 5 days (range 3- 11 days). L-carnitine treatment resulted in significant reduction in the LV diameter (mm) in diastole (47.6 [6.2] v. 42 [6.1], p < 0.01) and systole (42 [7.1] v. 28.2 [4], p<0.001); end-diastolic volume (ml) (108.7 [31.9] v. 81 [26.7], p <0.01) and end-systolic volume (ml) (81.3 [30.9] v. 31.1 [10.7], p < 0.001); and significant improvement in the stroke volume (ml) 27.8 [13.2] v. 61.7 [6.2], p<0.001) and ejection fraction (%) (25.5 [12.8] v. 61.2 [6.5], p<0.001). All the patients responded well to treatment and none died. CONCLUSION: Our initial observations suggest a potential benefit with additional oral L-carnitine treatment in patients with myocardial toxicity caused by scorpion sting presenting with hypotension and severe LV dysfunction. These findings merit further study.

Efecto de la D-Carnitina sobre la arquitectura ventricular de corazón de embrión de pollo: estudio estructural y ultraestructural / Effects of D-Carnitine in the myoarchitecture of the chick embryo heart ventricular region

Objetivo:El presente trabajo estudia, a nivel estructural y ultraestructural, el efecto de D-carnitina sobre la arquitectura ventricular de corazón de embrión de pollo de 5 días de desarrollo .Métodos: Se disecaron corazones a partir de embriones de cinco díasde desarrollo tratados con D-carnitina (6mg./Kg. de peso). Los controles fueron obtenidos a partir de embriones tratados con solución salina isotónica. Las muestras controles y tratadas fueron fijadas, post-fijadas, deshidratadas, infiltradas, incluidas y polimerizadas. Para el análisis en microscopia de luz (ML), se realizaron cortes gruesos teñidos con azul detoluidina y para microscopia electrónica de transmisión (MET)cortes finos contrastados con acetato de uranilo y citrato de plomo. Para microscopia electrónica de barrido (MEB), las muestras , fueron desecadas y cubiertas con oro para ser observadas en un microscopio de barrido (Hitachi-300) a 20 Kvolt de aceleración. Resultados:En los corazones tratados con D-carnitina disminuye:el espacio subepicárdico, el grosor del miocardio ventricular y del septum interventricular primitivo. La región ventricular carece de apariencia cónica, pierde la estrechez caudal y el ápice exhibe un patrón trabecular homogéneo. Se observa una arquitectura ventricular de apariencia esponjosa. Resalta la infiltración grasa ó presencia de gotas de lípidos en el interior de los miocitos. Conclusiones:D-carnitina cambia el patrón de estructuración normal del corazón embrionario. Se sugiere que L-carnitina actúa como factor regulador de la relación existente entre la anatomía y el metabolismo cardíaco

Valor terapéutico de la L-carnitina en la reducción del área necrótica en el infarto agudo del miocardio / Terapeutic value of L-carnitine in the reduction of the necrotic area in acute myocardial infarction

Introducción. Se han reportado defectos del metabolismo miocárdico en enfermedades cardiacas agudas y crónicas. Objetivo. Evaluar los efectos benéficos de la L-carnitina en la reducción del área de necrosis en el infarto agudo del miocardio. Pacientes y métodos. Estudiamos prospectivamente durante cinco días, 30 pacientes no trombolizados con infarto agudo del miocardio que ingresaron a una unidad de terapia intensiva (UTI): 20 pacientes (mujeres, 11 hombres, edad media de 54.6 ñ 2.5 años), grupo LC, recibieron tratamiento convencional más 50 mg/kg/día de L-carnitina IV, y 10 pacientes (cinco mujeres, cinco hombres, edad media de 55.7 ñ 1.6 años), grupo CN, sólo tratados con terapia convencional. El efecto protector de la L-carnitina sobre la cardiopatía isquemía se evaluó a través del decremento de los niveles plasmáticos de CK.MB, AST y LDH. Los datos se analizaron con la t de Student. Resultados. El pico máximo de CK-MB, AST y DHL fue 100.1 ñ 16.9, 46.7 ñ 2 y 147.6 ñ U/mL respectivamente en el grupo LC, y 184.5 ñ 29, 71.7 y 127.2 ñ 20.3 U/mL respectivamante también, en el grupo CN (p< 0.05). No se observaron efectos colaterales. Conclusión. La L-carnitina es útil en el manejo del infarto agudo del miocardio

Detección de deficiencia de acil CoA dehidrogenasa de cadena media a través de un programa de pesquisa neonatal en la Argentina / Medium chain acyl CoA dehidrogenase deficiency detected with a neonatal screening program

La deficiencia de acil-CoA-dehidrogenasa de cadena media (MCADD) es una de las enfermedades metabólicas congénitas (EMC) más frecuentes. Este trastorno de la ß-oxidación de los ácidos grasos se presenta generalmente en lactantes mayores de 6 meses. Las manifestaciones clínicas características son vómitos, letargo, hipotonía y leve hepatomegalia. El laboratorio revela hipoglucemia, hipocetosis, aumento moderado de las transaminasas y amonio y leve acidosis metabólica. El episodio es generalmente desencadenado por un ayuno prolongado o una enfermedad intercurrente. En un 18 por ciento de los casos la MCADD se manifiesta por primera vez con muerte súbita, la mortalidad total es de 24 por ciento y las secuelas de los pacientes que sobreviven pueden ser severas. La pesquisa neonatal de EMC es uno de los pilares de la medicina preventiva. Las enfermedades más comúnmente buscadas son la fenilcetonuria y el hipotiroidismo congénito, pero existen programas de pesquisa que abarcan otras EMC: como galactosemia, leucinosis o deficiencia de biotinidasa. La incorporación de una nueva tecnología, la espectrometría de masa en tándem (EMT), que permite la detección simultánea de 20 enfermedades, ha permitido incluir a los trastornos de la ß-oxidación dentro del grupo de patologías pasibles de detección neonatal. En el presente trabajo reportamos el primer caso de MCADD detectado por EMT en un programa de pesquisa neonatal en Argentina. Se presenta un niño RNT-PAEG con examen físico normal. La muestra de sangre fue obtenida a las 48 horas de vida con el paciente asintomático. El análisis se realizó en la Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN) como parte del programa de pesquisa neonatal por EMT. De la sangre impregnada en el papel de filtro se prepararon los éteres butílicos de acilcarnitinas y aminoácidos. La detección de las acilcarnitinas se realizó por EMT con un equipo VG Quatro II MS-MS (Micromass, Reino Unido) mediante el barrido de iones precursores de m/z 85. Los valores normales fueron obtenidos en una población de 400 recién nacidos sanos estudiados con la misma metodología. Como control patológico se analizó una muestra de una paciente con MCADD en tratamiento, diagnosticada en ocasión de presentarse con un síndrome de Reye. En el paciente se halló un marcado aumento de octanoilcarnitina (C8): 7,92 µM, con un menor aumento de hexacoilcarnitina (C6): 1,31 µM y decanoilcarnitina: 0,87 µM

Suplemento nutricional con L-Carnitina en niños obesos dislipidémicos / Nutritional supplement with L-dislipidemic obeses childrens

El tratamiento de niños dislipidémicos es controversial debido al balance riesgo-beneficio de los fármacos existetes. La L-carnitina es una sustancia endógena que cumple un papel fundamental en la utilización de los substratos lipídicos y favorece el metabolismo glucídico anaeróbico. Estudios clínicos han demostrado la eficacacia de la L-carnitina en el manejo de las dislipidemias en adultos. Se evaluó la eficacia y la tolerancia de la L-carnitina (3 g/día v.o) en 21 niños dislipidémicos, con edad promedio de 9,76 años, en un estudio doble ciego controlado vs placebo, por ocho semanas. La L-carnitina disminuyó el colesterol total (33,7 mg/dl, 17,1 por ciento), LDLc (33 mg/dl. 21,7 por ciento) y los triglicéridos (38,3 mg/dl, 25 por ciento). Incrementó el HDLc (1,62 mg/dl, 4,5 por ciento), y la tasa de riesgo CT/HDLc pasó de 5,5 a 4,6. Este grupo perdió 1,9 Kg de peso promedio y también en las medidas globales de pliegues y circunferencias en 3,2 por ciento. No se presentaron efectos adversos, ni retiros por intolerancia. Estos resultados sugieren que la L-carnitina es una alternativa terapéutica segura en niños dislipidémicos que requieren tratamiento farmacológico