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1.
J. pediatr. (Rio J.) ; 95(supl.1): S49-S58, 2019. tab, graf
Article in English | LILACS | ID: biblio-1002472

ABSTRACT

Abstract Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment. Data sources: Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "short stature" AND "immunologic deficiency syndromes", "immune deficiency disease", or "immune deficiency" NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive. Data summary: Inborn errors of immunity can affect growth in different ways, and some of them can change growth through multiple simultaneous mechanisms: genetic syndromes; disorders of the osteoarticular system; disorders of the endocrine system; reduction in caloric intake; catabolic processes; loss of nutrients; and inflammatory and/or infectious conditions. Conclusions: The type of inborn errors of immunity allows anticipating what type of growth disorder can be expected. The type of growth disorder can help in the diagnosis of clinical conditions related to inborn errors of immunity. In many inborn errors of immunity, the causes of poor growth are mixed, involving more than one factor. In many cases, impaired growth can be adjusted with proper inborn errors of immunity treatment or proper approach to the mechanism of growth impairment.


Resumo Objetivos: Revisão da literatura sobre as repercussões dos diferentes erros inatos da imunidade sobre o crescimento, chamar a atenção para o diagnóstico desse grupo de doenças em pacientes que apresentem desordens do crescimento, assim como permitir que se identifiquem as diferentes causas de alterações do crescimento em pacientes com erros inatos da imunidade, o que pode auxiliar em seu manejo. Fonte dos dados: Revisão não sistemática da literatura, com busca de artigos desde 2000 no Pubmed com os termos "growth" ou "growth disorders" ou "failure to thrive" ou "short stature" AND "immunologic deficiency syndromes" ou "immune deficiency disease" ou "imune deficiency" NOT HIV. E buscas na base OMIN (Online Mendelian Inheritance in Man) por imunodeficiências e baixa estatura ou falha no crescimento ("failure to thrive"). Síntese dos dados: Há diferentes modos pelos quais os erros inatos da imunidade podem afetar o crescimento e alguns deles podem alterar o crescimento por múltiplos mecanismos simultâneos: síndromes genéticas; afecções do aparelho osteoarticular; afecções do sistema endócrino; redução de aporte calórico; processos catabólicos: perda de nutrientes, assim como afecções inflamatórias e/ou infecciosas. Conclusões: O tipo de erros inatos da imunidade permite prever que tipo de alteração no crescimento devemos esperar. O tipo de alteração no crescimento pode auxiliar no diagnóstico de condições clínicas associadas aos erros inatos da imunidade. Em muitos erros inatos da imunidade, as causas do crescimento deficiente são mistas, envolvem mais de um fator. Em muitos casos, o prejuízo do crescimento pode ser corrigido com o adequado tratamento dos erros inatos da imunidade ou adequada abordagem do mecanismo que causa o prejuízo do crescimento.


Subject(s)
Humans , Growth Disorders/etiology , Immunologic Deficiency Syndromes/complications , Metabolism, Inborn Errors/complications , Immunologic Deficiency Syndromes/classification , Metabolism, Inborn Errors/classification
2.
Rev. chil. pediatr ; 89(1): 74-78, feb. 2018. tab
Article in Spanish | LILACS | ID: biblio-900071

ABSTRACT

Resumen: Introducción: La hiperamonemia neonatal secundaria a errores congénitos del metabolismo es una entidad poco frecuente pero con una alta tasa de secuelas neurológicas y mortalidad. El manejo médico inicial es en muchas ocasiones insuficiente para detener el progresivo aumento de la amonemia, con el consecuente deterioro del paciente. Por esta razón se han implementado técnicas depurativas entre las que se cuenta la diálisis peritoneal, la hemodiálisis intermitente y las terapias de reemplazo renal continuo (TRRC). Objetivo: Describir nuestra experiencia en diálisis extracorpórea continua en pacientes con hiperamonemia neonatal gravemente enfermos. Pacientes y Método: Revisión retrospectiva de fichas clínicas de neonatos con hiperamonemias secundarias a errores congénitos del metabolismo sometidos a TRRC, admitidos en nuestra institución en los últimos 6 años. Se obtuvieron datos demográficos, edad cronológica y gestacional, género; datos antropométricos y de laboratorio (creatininemia, amonemia) e índice de gravedad por PIM-II. Se analizó la TRRC utilizada: modalidad, duración y complicaciones. El inicio de la terapia dependió de la respuesta al manejo médico en las primeras 24 horas, compromiso neurológico progresivo, o cifras de amonio sanguíneo elevados (> 400 μg/dl) al momento del ingreso. Las TRRC fueron realizadas con la máquina Prisma Flex, usando filtros M100 y/o HF20. Resultados: 6 neonatos, 4 varones, la mitad con antecedentes de prematurez, todos con compromiso neurológico agudo severo y amonemias en rango grave (> 1.000 μg/dl). La edad y peso promedio al iniciar la TRRC fueron de 10 días y 2.798 g respectivamente, amonemia (mediana) 1.663 μg/dl (rango 1.195-3.097). El puntaje PIM-II tuvo una mediana de 53 (rango 13,4-87,4). En promedio, los pacientes estuvieron 49,5 h en la terapia continua. En cuatro neonatos se usó una técnica dialítica mixta convectiva y difusiva (hemodiafiltración), y solo convectiva (hemofiltración) en las 2 restantes. La mortalidad fue de 33%, y uno de los sobrevivientes quedó con daño neurológico moderado permanente en seguimiento clínico. Conclusiones: Los resultados obtenidos en este grupo de neonatos extremadamente graves nos incentivan a proponer esta terapia dialítica como una excelente alternativa en el manejo de este tipo de pacientes.


Abstract: Introduction: Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the progressive increase of ammonia, with the consequent deterioration of the patient. For this reason, depurative techniques have been implemented, including peritoneal dialysis, intermittent hemodialysis and continuous renal replacement therapy (CRRT). Objective: To describe our experience with continuous extracorporeal dialysis in severely ill neonates with hyperammonemia. Patients and Methods: Retrospective review of clinical records of neonates with hyperammonemia due to congenital errors of metabolism undergoing CRRT admitted in our institution in the last 6 years. Demographic data, chronological and gestational age, gender, anthropometric and laboratory data (creatininemia, ammonemia), and severity index PIM-II where collected. It was analyzed the CRRT: modality, duration and complications. The stard of therapy depended on the response to medical management in the first 24 hours, progressive neurological involvement, or increased blood ammonia (> 400 qg/dl) at the time of admission. CRRTs were performed using the Prisma Flex system and M100 and/or HF20 filters. Results: 6 neonates, 4 males, half of them with a history of prematurity, all with severe acute neurological involvement and severe ammonemias (> 1,000 qg/dl). The average age and weight at the start of the CRRT were 10 days and 2798 g, respectively, ammonia (median) 1,663 qg/dl (range 1,195 - 3,097). The PIM-II score had a median of 53 (range 13.4 - 87.4). On average, patients were 49.5 hours in continuous therapy. In four neonates, a mixed convective and diffusive technique (hemodiafiltration) was used, and only convective one (hemofiltration) in the 2 remaining. Mortality was 33%, and one of the survivors had permanent moderate neurological damage in clinical follow-up. Conclusions: The results obtained in this extremely ill group of neonates encourage us to propose this dialytic therapy as an excellent alternative in the management of this type of patients.


Subject(s)
Humans , Male , Female , Infant, Newborn , Hemofiltration/methods , Hyperammonemia/therapy , Severity of Illness Index , Infant, Premature , Retrospective Studies , Follow-Up Studies , Treatment Outcome , Hyperammonemia/diagnosis , Hyperammonemia/etiology , Hyperammonemia/mortality , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/etiology , Infant, Premature, Diseases/mortality , Infant, Premature, Diseases/therapy , Metabolism, Inborn Errors/complications
3.
Acta pediátr. hondu ; 6(1): 423-429, abr.-sep. 2015. ilus, tab.
Article in Spanish | LILACS | ID: biblio-884455

ABSTRACT

Antecedentes: La enfermedad de orina olor a jarabe de arce (EOJA) es un error congénito del metabolismo de herencia autosómica recesiva, causado por la actividad defectuosa del com- plejo enzimático deshidrogenasa de α -cetoáci- dos, ocasionando que los aminoácidos de cadena ramificada; valina, leucina e isoleucina no puedan catabolizarse completamente. Se trata de lactante menor, tres meses de edad, con antecedente de vómitos frecuentes y rechazo a la alimentación desde la primera semana de vida, tratado por alergia a la proteí- na de la leche de vaca y reflujo gastroesofágico grado IV, con varios cambios de formula en su alimentación. Trasladado al Instituto Hondure- ño del Seguro Social, Hospital Regional del Norte (IHSS-HRN) con historia de cinco días de tos, fiebre y aproximadamente nueve horas de dificultad respiratoria. Tres horas más tarde presenta convulsiones tónicas y choque, por lo que se trasladado a sala de cuidados intensivos pediátricos, acoplándose a ventilador mecáni- co. Laboratorialmente: acidosis metabólica persistente que se logró controlar a las 48 horas, Anión Gap: 17, cetonuria, IRM con impor- tante atrofia cortical. Se encontró elevación de los metabolitos de aminoácidos de cadena ramificada; 2-OH isovalerico, 2- OH isocaproico, 2-ceto-3 methylvalerico, 2 cetoisocaproico consistentes con EOJA y elevación del ácido láctico y alfa cetoglutarato; que podrían indicar defectos en la subunidad E3 de la enzima deshidrogenasa. Conclusiones: Los errores innatos del metabolismo son más frecuente- mente diagnosticados cada día, y deben sospe- charse en los niños con vómitos frecuentes...(AU)


Subject(s)
Humans , Male , Infant , Anemia, Neonatal/complications , Congenital Abnormalities , Maple Syrup Urine Disease/diagnosis , Metabolism, Inborn Errors/complications
4.
Rev. bras. ecocardiogr. imagem cardiovasc ; 24(1): 88-92, jan.-mar. 2011. ilus, tab
Article in Portuguese | LILACS | ID: lil-571189

ABSTRACT

A mucopolissacaridose tipo VI (MPS VI) é uma doença rara causada pela deficiência da enzima lisossômica arilsulfatase B, com consequente acúmulo de glicosaminoglicanos (GAGs) em vários tecidos, incluindo o cardiovascular. Com o objetivo de descrever as manifestações cardiovasculares na MPS VI, uma das principais causas de óbito, seis pacientes (4 a 13 anos) foram avaliados por exame físico, eletrocardiograma e ecocardiograma. Todos os pacientes, exceto a paciente com a menor idade, apresentaram sopro cardíaco e alterações ecocardiográficas. Os 6/6 pacientes apresentaram, no eletrocardiograma, desvio do eixo cardíaco para a direita, associado à sobrecarga atrial esquerda (1/6) ou distúrbio de condução (1/6).


Subject(s)
Humans , Male , Female , Adult , Metabolism, Inborn Errors/complications , Mitral Valve Insufficiency/complications , Mitral Valve Insufficiency/diagnosis , Mucopolysaccharidosis VI/complications , Mucopolysaccharidosis VI/mortality , Echocardiography/methods , Echocardiography , Electrocardiography/methods , Electrocardiography
5.
Clinics ; 66(supl.1): 55-63, 2011. tab
Article in English | LILACS | ID: lil-593149

ABSTRACT

Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3 percent of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Intellectual disability is a clinically important disorder for which the etiology and pathogenesis are still poorly understood. Moreover, although tremendous progress has been made, pharmacological intervention is still currently non-existent and therapeutic strategies remain limited. Studies in humans have a very limited capacity to explain basic mechanisms of this condition. In this sense, animal models have been invaluable in intellectual disability investigation. Certainly, a great deal of the knowledge that has improved our understanding of several pathologies has derived from appropriate animal models. Moreover, to improve human health, scientific discoveries must be translated into practical applications. Translational research specifically aims at taking basic scientific discoveries and best practices to benefit the lives of people in our communities. In this context, the challenge that basic science research needs to meet is to make use of a comparative approach to benefit the most from what each animal model can tell us. Intellectual disability results from many different genetic and environmental insults. Taken together, the present review will describe several animal models of potential intellectual disability risk factors.


Subject(s)
Animals , Disease Models, Animal , Intellectual Disability/genetics , Metabolism, Inborn Errors/genetics , Down Syndrome/genetics , Fragile X Syndrome/genetics , Intellectual Disability/etiology , Metabolism, Inborn Errors/complications , Rett Syndrome/genetics
6.
Medicina (B.Aires) ; 69(1,supl.1): 41-50, 2009. tab
Article in Spanish | LILACS | ID: lil-633614

ABSTRACT

Las convulsiones del período neonatal y del primer año de vida pueden tener un origen, un tratamiento y un pronóstico muy distintos y serán el neonatólogo y el neuropediatra quienes mejor las conozcan y manejen con mayor experiencia. Existen formas graves de encefalopatía epiléptica del período neonatal como el Sídrome Ohtahara o la encefalopatía mioclónica de Aicardi, con un pronóstico muy reservado y una elevada morbimortalidad. Además existen algunas formas de convulsiones y epilepsias del período neonatal y del lactante joven que no responden al empleo de fármacos antiepilépticos (FAEs). En esta situación el iniciar precozmente otro tipo de terapia puede evitar el deterioro neurológico que, sin duda debido a las crisis convulsivas, se producirá y podrá permitir al paciente llevar una vida normal con la única obligación de tomar de por vida una medicación distinta de los FAEs. Revisamos el grupo de defectos metabólicos que dan lugar a convulsiones y epilepsias y cuyo tratamiento es muy distinto al de una epilepsia. Incluimos en esta revisión algunas formas de convulsiones y epilepsias del lactante joven que tienen en la actualidad tratamiento efectivo mediante sustancias totalmente distintas de los FAEs.


Convulsions appearing in the neonatal or first year of life can have a very different origin, treatment or prognosis and it shall be up to the neonatologist or neuropediatrician to resolve the problem since they are the ones who know their patients best. There are severe forms of epileptic encephalopathy in the neonatal period such as Ohtahara syndrome or Aicardi myoclonic encephalopathy with poor prognosis and high morbimortality. Furthermore, there are forms of convulsions and epilepsies during the neonatal and infant period which do not respond to AED. In such cases, it is important to initiate as soon as possible another type of treatment to prevent a neurological deterioration due to repeated convulsion crises and thus allow the patients to lead a normal life with the only obligation to take a different medication from AED during their whole life. We discuss the metabolic defects which lead to convulsions and epilepsies and their various treatments. We also include a revision of some forms of convulsions and epilepsies in the infant insisting on treatments with substances completely different from AEDs.


Subject(s)
Humans , Infant, Newborn , Metabolism, Inborn Errors/complications , Seizures/etiology , Anticonvulsants/therapeutic use , Epilepsy/complications , Seizures/drug therapy
7.
Indian Pediatr ; 2008 Oct; 45(10): 829-37
Article in English | IMSEAR | ID: sea-14051

ABSTRACT

Photosensitive disorders in children are not uncommon in our country. It is often difficult to establish the diagnosis, either due to confusing presentation or ignorance by the parents. We review the presentation and management of photosensitive disorders in children.Detailed history and thorough clinical examination is essential in arriving at a particular diagnosis. Photosensitive disorders in children are idiopathic, or related to nutritional, genetic, metabolic or connective tissue diseases. Most photosensitive disorders begin in infancy or childhood and persist for invariable period during adulthood. However, their severity decreases with age. As there is no definitive treatment in most of the cases, the only treatment is prevention from further exposure to sunlight. Our aim should be to minimize the photo damage which can be achieved by adopting different methods of photoprotection. Photoprotection can be achieved by using adequate sunscreens, proper clothing and avoidance of sun exposure. It is recommended that these children and their parents should be adequately counseled about the disease and different methods of photoprotection. This article describes how to diagnose photosensitive disorders in children and its management.


Subject(s)
Child , Connective Tissue Diseases/complications , Humans , Metabolism, Inborn Errors/complications , Photosensitivity Disorders/diagnosis , Sunscreening Agents/therapeutic use
8.
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 1-6
in English | IMEMR | ID: emr-76545

ABSTRACT

In developed countries, cardiovascular disease is now the most common cause of death. Only recently, it has been recognized that a substantial number of inherited metabolic disorders contribute significantly to cardiovascular disability and death because of either a direct relationship between the inborn error and outcome or a genetic predisposition resulting from interrelation between gene variants and environmental factors. In this review, we summarized some of the more important genetic disorders affecting different components of the cardiovascular system


Subject(s)
Metabolism, Inborn Errors/complications , Cardiovascular System , Cardiomyopathy, Hypertrophic , Cardiomyopathy, Dilated , Glycogen Storage Disease , Romano-Ward Syndrome , Connective Tissue Diseases , Cardiovascular Diseases
10.
Indian J Pediatr ; 2003 Jul; 70(7): 549-52
Article in English | IMSEAR | ID: sea-84064

ABSTRACT

OBJECTIVE: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities. METHODS: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded. RESULT: Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest). CONCLUSION: Up to 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.


Subject(s)
Adolescent , Child , Child, Preschool , Down Syndrome/complications , Eye Diseases/congenital , Humans , Infant , Infant, Newborn , Metabolism, Inborn Errors/complications , Prospective Studies
11.
Article in English | IMSEAR | ID: sea-44237

ABSTRACT

Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased survival. The authors report 5 cases of urea cycle disorders, all of whom developed and were rescued from hyperammonemic coma. However, the eventual outcome was quite variable. Argininosuccinate lyase deficiency (ALD) Case 1. A 2 month old male infant, a product of a consanguineous marriage (Suphanburi province); developed poor feeding on day 7, lethargy, convulsion, hepatomegaly and respiratory alkalosis leading to respiratory failure and coma. Hyperammonemia, elevation of glutamic acid and argininosuccinic acid and its anhydrides confirmed the diagnosis of ALD. He is now 9 years old and severely retarded. Case 2. A male infant with history of lethargy, poor feeding on day 3, treated as sepsis and required respiratory support for 6 days; subsequently readmitted at age 2 weeks with vomitting, lethargy, seizure activity and hyperammonemia, and was treated by a local pediatrician in Songkhla province. There was a history of parental consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level. In spite of aggressive treatment; the patient developed sepsis and he expired on day 78. Ornithine transcarbamylase deficiency (OTC) Case 3. An eleven-month-old male infant, the product of a non-consanguineous marriage, developed neonatal onset of hyperammonemia on day 5 after poor feeding, lethargy, hypothermia, seizure, apnea and coma. He was rescued from neonatal hyperammonemic coma on day 9 after aggressive treatment, but expired at eleven months of age after overwhelming sepsis. Case 4. A male infant, sibling of case 3 was referred to Siriraj Hospital on day 8 with hyperammonemia and coma. In spite of intensive genetic counseling given after the birth of their first child with OTC, the couple chose to have another baby without informing any physician. The baby developed vomiting and lethargy on day 2; subsequently hyperammonemia was noted. In spite of aggressive treatment given; hepatic dysfunction, renal failure and disseminated intravascular coagulation defects occurred on day 15. He expired on day 18 after parental permission for discontinuation of all treatment. Argininosuccinate synthetase deficiency (ASS) or Citrullinemia. Case 5. A seven week old female infant, the product of a consanguineous marriage and of Pakistani ethnic origin; developed intermittent vomiting from day 6. Initial diagnoses included ruminations, sepsis and pyloric stenosis for which she was operated on (day 30); however, vomiting continued; subsequently seizures, hyperammonemic coma developed and she was rescued from hyperammonemic coma within 30 hours. Significant elevations of citrulline and L-glutamine were demonstrated. She was discharged in excellent condition to her home in Dubai, the United Arab Emirates.


Subject(s)
Argininosuccinate Synthase/deficiency , Brain Diseases, Metabolic/diagnosis , Child Development/physiology , Fatal Outcome , Female , Humans , Infant , Infant, Newborn , Male , Metabolism, Inborn Errors/complications , Ornithine Carbamoyltransferase/deficiency , Prognosis , Risk Assessment , Severity of Illness Index , Thailand , Urea/metabolism
12.
Indian J Pediatr ; 2000 Jul; 67(7): 541-3
Article in English | IMSEAR | ID: sea-78397

ABSTRACT

Type I hyperprolinemia is an autosomal recessive disorder characterized by increased plasma and urine proline concentrations due to a deficiency of the enzyme, proline oxidase. This rare inborn error of proline metabolism is generally believed to be a benign condition although many associated clinical abnormalities have been reported. We report two siblings with Type I hyperprolinemia who presented with recurrent seizures. They had elevated plasma proline levels with massive prolinuria without an increased urinary excretion of delta 1-pyrolline-carboxylic acid.


Subject(s)
Female , Humans , Infant , Metabolism, Inborn Errors/complications , Proline Oxidase/deficiency , Recurrence , Seizures/etiology
13.
Indian J Pediatr ; 2000 Jun; 67(6): 464-6
Article in English | IMSEAR | ID: sea-79547

ABSTRACT

Biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.


Subject(s)
Amidohydrolases/deficiency , Biotin/therapeutic use , Biotinidase , Humans , Infant , Male , Metabolism, Inborn Errors/complications , Nervous System Diseases/etiology , Prognosis
14.
Arq. neuropsiquiatr ; 56(3A): 472-5, set. 1998. tab
Article in Portuguese | LILACS | ID: lil-215307

ABSTRACT

Estudamos um paciente que apresentou dois episódios de coma no primeiro mês de vida, com descompensaçao metabólica, nos quais se observou hipoglicemia e acidose metabólica acentuada, sem cetonúria. O estudo dos ácidos orgânicos urinários demonstrou elevaçao acentuada de 3-OH-3-metil-glutárico, 3-metil-glutacônico, 3-metil-glutárico e 3-OH-isovalérico. Os sinais e sintomas clínicos associados às alteraçoes metabólicas citadas permitiram o diagnóstico da deficiência da 3-OH-3-metil-glutaril-CoA-liase, entidade de origem autossômica recessiva, passível de ser tratada, como no caso estudado, com dieta hipoproteica, restrita em leucina, hipogordurosa e rica em carboidratos, associada a L-carnitina e evitando-se períodos prolongados de jejum.


Subject(s)
Infant, Newborn , Humans , Male , Coma/etiology , Metabolism, Inborn Errors/complications , Metabolism, Inborn Errors/diagnosis , Oxo-Acid-Lyases/deficiency , Leucine/metabolism , Metabolism, Inborn Errors/diet therapy , Metabolism, Inborn Errors/genetics
15.
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo ; 53(4): 195-8, jul.-ago. 1998.
Article in Portuguese | LILACS | ID: lil-228062

ABSTRACT

A acidemia propionica e uma desordem do metabolismo de acidos organicos caracterizada por um amplo espectro de variacao clinica e laboratorial. Muitas vezes ja se manifesta no periodo neonatal, quando a mortalidade e elevada e as sequelas neurologicas sao graves nos sobreviventes. O caso apresentado refere-se a um recem-nascido do sexo masculino, saudavel ate 49 horas de vida, quando iniciou quadro de recusa alimentar, gemencia e hipotermia. Evoluiu com piora clinica progressiva atingindo estado de neurotoxicidade importante. Desenvolveu acidose metabolica grave e a deteccao de elevados niveis de acido 3-hidroxi-propionico, 2-metil-3-hidroxibutirico e metil-citrico na urina, confirmou o diagnostico de acidemia propionica


Subject(s)
Humans , Female , Infant, Newborn , Male , Adult , Acidosis/diagnosis , Metabolism, Inborn Errors/complications , Acidosis/complications , Genetic Counseling/trends
16.
Indian Pediatr ; 1995 Mar; 32(3): 301-6
Article in English | IMSEAR | ID: sea-15170

ABSTRACT

Twenty four patients of classical marasmus and kwashiorkor along with equal number of healthy controls were selected for the study. Their serum amino acid patterns analysis revealed a mean ratio of glutamate to alanine in fasting samples of normal individuals to be 0.33, while it as 9.3 in kwashiorkor and 1.6 in marasmus. This differences in controls, kwashiorkor and marasmus was statistically significant. This observation may explain evolution of marasmus and kwashiorkor in children with similar diets. On the basis of the present observation it is postulated that in kwashiorkor, the conversion of pyruvate to alanine in presence of glutamate, an aminogroup donor does not proceed normally, resulting in accumulation of glutamate and low alanine. Thus the development of marasmus and kwashiorkor may not be related to dietary inadequacy alone but also to the transaminase function. This could be genetic in origin.


Subject(s)
Amino Acids/blood , Case-Control Studies , Diet , Humans , India/epidemiology , Infant , Kwashiorkor/blood , Metabolism, Inborn Errors/complications , Prospective Studies , Protein-Energy Malnutrition/blood
18.
Indian Pediatr ; 1990 Jun; 27(6): 559-69
Article in English | IMSEAR | ID: sea-12478

ABSTRACT

The associated factors in 80 children (less than 2 yrs) with protracted diarrhea (greater than 21 days duration) and weight loss were: secondary carbohydrate intolerance (36): enteric pathogens (non typhoidal salmonella (11), enteropathogenic E. coli 'EPEC' (6), giardia (4), and shigella (3); cow's milk protein intolerance (3), gluten intolerance (3); miscellaneous (5); and undiagnosed enteropathy (9). Three of the EPEC showed localised pattern of adherence in vitro with HEP-2 cells. Most patients with salmonella and EPEC had severe secretory diarrhea with large fecal sodium losses. All 6 patients who died had secretory diarrhea and very high fecal sodium. All but 4 patients could be effectively managed with a chicken puree-glucose-coconut oil based diet.


Subject(s)
Chronic Disease , Diarrhea, Infantile/etiology , Female , Humans , Infant , Infant, Newborn , Malabsorption Syndromes/etiology , Male , Metabolism, Inborn Errors/complications , Salmonella Infections , Salmonella typhimurium
19.
Arch. invest. méd ; 21(2): 127-32, abr.-jun. 1990. ilus, tab
Article in Spanish | LILACS | ID: lil-177274

ABSTRACT

Se estudiaron 133 pacientes con cataratas congénitas o idiopáticas (94 pacientes con edades entre 1 mes y 14 años, 10 pacientes con edades entre 16 y 50 años y en 29 pacientes no se registró la edad) y 18 pacientes con diagnóstico clínico de galactosemia clásica. Se cuantificaron las actividades de la galactokinasa (GALK) y de la uridil transferasa de la galactosa 1-fosfato (GALT) eritrocitarias. No se identificaron individuos con deficiencia total de GALK o GALT. En el grupo de pacientes con cataratas con edades entre 1 mes y 14 años, 3 (3.19//) y 4 (4.25//) mostraron niveles de GALK y GALT en el rango correspondiente a los heterocigotos respectivamente. En comparación con la incidencia esperada de heterocigotos en la población general (0.2 por ciento para GALK y 0.8 por ciento para GALT) encontramos un incremento significativo de individuos con niveles reducidos de enzimas del metabolismo de la galactosa. Se discute la posibilidad de que los estados galactosémicos heterocigotos constituyen un factor de riesgo para el desarrollo de cataratas y sus implicaciones terapéuticas


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Cataract/etiology , Galactose/metabolism , Metabolism, Inborn Errors/complications
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