Congenital chylous ascites: a case report

Due to the rarity of congenital chylous ascites and the lack of standards in diagnosis and therapy, this disease constitutes a medical challenge and individual therapy seems to be extremely important. A late preterm newborn with antenatally diagnosed ascites was born and chylous ascites was diagnosed after feeds were started. The baby was managed initially with nil per oral, parenteral nutrition and octreotide, followed by adding MCT formula feeds. Considering the rarity of neonatal chylous ascites and the non-uniformity in management plans and follow up, more case reports need to be published. Also, MCT formula, the main stay of management has to be discontinued as soon as possible with gradual introduction into breast feeds or normal newborn formula milk as long chain fatty acids are essential for optimal brain growth in newborns.

Adrenomieloneuropatía, fenotipo de la adrenoleucodistrofia ligada al cromosoma X. Reporte de un caso / Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report

Introducción: La adrenomieloneuropatía es una enfermedad peroxisomal, con patrón de herencia ligada al sexo. Es una variedad fenotípica de la adrenoleucodistrofia ligada al cromosoma X, esta última es también causa de insuficiencia adrenal. La adrenomieloneuropatía no pura cursa con insuficiencia adrenal. El diagnóstico de la enfermedad se hace por dosificación de ácidos grasos de cadena muy larga en suero. Para el diagnóstico de los fenotipos se emplean datos clínicos, anamnesis, datos de laboratorio y de imagen. Objetivo:Presentar un caso de adrenoleucodistrofia ligada al cromosoma X, fenotipo adrenomieloneuropatía, evaluado por reibergrama. Presentación del caso: Se presenta un caso de adrenomieloneuropatía e insuficiencia adrenal en un paciente masculino de 4 años de evolución, el cual ha sido hospitalizado en el Hospital Clínico-Quirúrgico Dr. Miguel Enríquez de La Habana, Cuba, en 2016 por un proceso respiratorio. Se diagnostica adrenoleucodistrofia ligada al cromosoma X, para identificar las variantes fenotípicas se tuvieron en cuenta los exámenes de laboratorio, técnicas imagenológicas, método clínico y una adecuada anamnesis. Conclusiones: El reibergrama puede contribuir al diagnóstico diferencial entre los fenotipos de la ADL-X y a la comprensión de la respuesta neuroinmunológica en esta enfermedad tal y como se demuestra en este caso(AU)

Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency. Non-pure adrenomyeoloneuropathy occurs with adrenal insufficiency. The diagnosis of the disease is made by dosing very long chain fatty acids in serum. Clinical data, anamnesis, laboratory exams and imaging data are used for the diagnosis of phenotypes. Objective: To present a case of X-linked adrenoleukodystrophy, adrenomyeoloneuropathy phenotype, evaluated by Reibergram. Case presentation: We present a case of adrenomyeoloneuropathy and adrenal insufficiency in a male patient of 4 years of evolution who was admitted to Dr. Miguel Enríquez Clinical and Surgical Hospital, Havana, Cuba, 2016 because he was suffering from a respiratory process. The diagnosis of X-linked adrenoleukodystrophy was made. Laboratory exams, imaging techniques, the clinical method, and an adequate anamnesis were taken into account to for the identification of phenotypic variants. Conclusions: Reibergram can contribute to the differential diagnosis between ADL-X phenotypes and the understanding of the neuroimmunological response in this disease, as it is demonstrated in this case(AU)

Adrenoleucodistrofia ligada al X: presentación de tres casos. Importancia del diagnóstico precoz / X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis

La adrenoleucodistrofia ligada al X es el trastorno peroxisomal más común. Se debe a mutaciones en el gen ABCD1, lo que ocasiona un acúmulo de ácidos grasos saturados de cadena muy larga en el suero, la corteza adrenal y la sustancia blanca del sistema nervioso central. La clínica se caracteriza por deterioro neurològico e insuficiencia suprarrenal con un pronóstico devastador. Se presenta un primer caso clínico de adrenoleucodistrofia ligada al X con evolución fatal que permitió identificar a dos familiares asintomáticos e instaurar un tratamiento preventivo. Aunque, en la actualidad, no existe un tratamiento curativo definitivo, hay que destacar la importancia del estudio familiar de pacientes en situación de riesgo para poder instaurar un tratamiento preventivo precoz y dar un asesoramiento genético adecuado.

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.

Caracterización espectroscópica del D-003 obtenido de la cera de caña de azúcar (Saccharum officinarum L. ) / Spectroscopic characterization of D-003 obtained from the sugar cane (Saccharum officinarum L. ) wax

Introducción: el D-003 es un ingrediente farmacéutico activo purificado a partir de la cera de caña de azúcar (Saccharum officinarum L.) con efectos como reductor del colesterol y antioxidante, el cual está compuesto por una mezcla de ácidos grasos libres saturados de elevado peso molecular, cada uno dentro de un intervalo de concentración específica determinada por cromatografía de gases (CG). La caracterización espectroscópica del D-003, sin embargo, no ha sido previamente informada. Objetivo: caracterizar el ingrediente farmacéutico activo nombrado D-003 de acuerdo con sus espectros ultravioleta (UV), infrarrojo (FTIR), resonancia magnética nuclear (RMN) y de masas (EM). Métodos: se evaluaron muestras de seis lotes de D-003 (CNIC, Cuba) mediante las técnicas de UV, FTIR, RMN-¹H, RMN-13C y CG-EM. Para obtener los espectros de masas de los ácidos del D-003, estos se derivaron como ésteres metílicos y trimetilsilil. La cuantificación de los ácidos grasos libres saturados de elevado peso molecular, analizados como ésteres metílicos, se llevó a cabo por CG con detector de ionización por llama (DILL). Resultados: los espectros UV, IR, RMN-¹H y RMN-13C mostraron que el ingrediente farmacéutico activo D00-3 está constituido por una mezcla de ácidos grasos libres saturados de elevado peso molecular, mientras las técnicas de CG-EM y CG-DILL permitieron asegurar la presencia de 13 ácidos grasos libres saturados de elevado peso molecular en proporciones definidas: C24:0 (0,2-0,6 por ciento), C25:0 (0,4-0,9 por ciento), C26:0 (2,0-3,1 por ciento), C27:0 (2,1-2,7 por ciento), C28:0 (30,0-37,5 por ciento), C29:0 (1,5-1,7 por ciento), C30:0 (17,0-18,6 por ciento), C31:0 (0,9-1,2 por ciento), C32:0 (6,9-8,9 por ciento), C33:0 (0,9-1,3 por ciento), C34:0 (7,2-11,1 por ciento), C35:0 (0,3-0,6 por ciento) y C36:0 (2,2-3,8 por ciento)(AU)

Introduction: D-003, an active pharmaceutical ingredient (API) purified from sugar cane (Saccharum officinarum L.) wax with cholesterol-lowering and antioxidant effects, is composed of a mixture of free saturated very long chain fatty acids (VLCFAs), each within specific relative concentration ranges as determined by the gas chromatography (GC). However, the spectroscopic characterization of D-003 had not been previously reported. Objective: to characterize the active pharmaceutical ingredient named D003 in accordance to its ultraviolet (UV), infrared (FTIR), nuclear magnetic resonance (NMR) and mass (MS) spectra. Methods: samples of six batches of D-003 (CNIC, Cuba) were evaluated by UV, FTIR, NMR-¹H, NMR-13C, and GC-MS techniques. For obtaining the mass spectra of D-003 acids, methyl (FAME) and trimethylsilyl ester derivatives were used. Quantification of free very long chain saturated fatty acids , analyzed as methyl ester derivatives, was made by GC with flame ionisation detector (FID). Results: UV, FTIR, and ¹H-NMR, 13C-NMR spectra showed that active pharmaceutical ingredient D-003 was composed of a mixture of free very long chain fatty acids, whereas the GC-MS and GC-FID techniques allowed ensuring the occurrence of 13 VLCFAs in set proportions: C24:0 (0.2-0.6 percent), C25:0 (0.4-0.9 percent), C26:0 (2.0-3.1 percent), C27:0 (2.1-2.7 percent), C28:0 (30.0-37.5 percent), C29:0 (1.5-1.7 percent), C30:0 (17.0-18.6 percent), C31:0 (0.9-1.2 percent), C32:0 (6.9-8.9 percent), C33:0 (0.9-1.3 percent), C34:0 (7.2-11.1 percent), C35:0 (0.3-0.6 percent) and C36:0 (2.2-3.8 percent). Conclusions: evidences from the UV, FTIR, NMR and GC-MS spectroscopic techniques prove that D-003 is composed of 13 saturated very long chain fatty acids, including octacosanoic acid as the most abundant one(AU)

Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus

Recent animal studies have indicated that overexpression of the elongation of long-chain fatty acids family member 6 (Elovl6) gene can cause insulin resistance and β-cell dysfunction. These are the major factors involved in the development of type 2 diabetes mellitus (T2DM). To identify the relationship between single nucleotide polymorphisms (SNP) of ELOVL6 and T2DM pathogenesis, we conducted a case-control study of 610 Han Chinese individuals (328 newly diagnosed T2DM and 282 healthy subjects). Insulin resistance and islet first-phase secretion function were evaluated by assessment of insulin resistance in a homeostasis model (HOMA-IR) and an arginine stimulation test. Three SNPs of the ELOVL6 gene were genotyped with polymerase chain reaction-restriction fragment length polymorphism, with DNA sequencing used to confirm the results. Only genotypes TT and CT of the ELOVL6 SNP rs12504538 were detected in the samples. Genotype CC was not observed. The T2DM group had a higher frequency of the C allele and the CT genotype than the control group. Subjects with the CT genotype had higher HOMA-IR values than those with the TT genotype. In addition, no statistical significance was observed between the genotype and allele frequencies of the control and T2DM groups for SNPs rs17041272 and rs6824447. The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance.

Change of plasma very long chain fatty acids in obese children / 中华内分泌代谢杂志

Objective To investigate the changes in plasma very long chain fatty acids (VLCFAs),and to explore its relationship with obesity-related index in obese children.Methods One hundred and sixty-six obese children aged 7 to 12 years old were investigated and 148 health children matched with age and sex were selected as control group.Their height,weight,and waist circumference (WC) were measured.The percentage of body fat (PBF) was tested by dual-energy X-ray absorptiometry.Fasting blood triglycerides (TG),total cholesterol (TC),high density lipoprotein-cholesterol (HDL-C),low density lipoprotein-cholesterol (LDL-C) levels,fasting plasma glucose,and fasting insulin (FINS) were determined.The body mass index (BMI),BMI-Z score,waist to height ratio (WHtR),and homeostasis model assessment for insulin resistance (HOMA-IR) were calculated.The plasma VLCFAs were analyzed by gas chromatography-mass spectrometry.Results (1) Compared with normal control children,body weight,BMI,BMI-Z score,WC,WHtR,PBF,TG,TC,LDL-C,FINS,and HOMA-IR in obese children were increased (all P ＜ 0.05),and the level of HDL-C was decreased (P ＜ 0.05).(2) The plasma levels of docosamonoenoic acid (C22 ∶ 1 n-9) and arachidonic acid (C20 ∶ 4n-6) were decreased while the levels of arachicacid (C20 ∶ 0) and eicosapentaenoic acid (C20 ∶ 5n-3) increased in obese children compared to non-obese children.(3) The linear correlation analysis showed that PBF was positively correlated with C20 ∶ 0 and C20 ∶ 5n-3,and negatively correlated with C20 ∶ 4n-6.WHtR was negatively correlated with C22 ∶ 1 n-9 and positively correlated with C20 ∶ 0 (4) The multiple stepwise regression analysis showed that C20 ∶ 0 was the main factor for PBF,and C22 ∶ 1 n-9 and C20 ∶ 0 were the main factors for WHtR.Conclusion The metabolic abnormality of plasma very long chain fatty acids exists in obese children.The changes in C20 ∶ 0,C22 ∶ 1 n-9,and C20 ∶ 5n-3 may be associated with obesity in children.

Analysis of Plasma Long-Chain Fatty Acids in Hypertensive Patients

BACKGROUND: Numerous studies have suggested that polyunsaturated fatty acids (PUFAs)-supplemented diets may decrease cardiovascular morbidity and mortality. Especially, omega-3 PUFAs may exert beneficial effects to the treatment and prevention of dyslipidemias, arrhythmias, atherosclerosis, and hypertension. METHODS: This study investigated plasma lipid profiles including total cholesterol, triglycerides (TG), LDL, HDL, and antioxidant status indicative of vitamin A, vitamin E, malondialdehyde (MDA) and distribution of plasma long-chain fatty acids (C12-C24) in 28 normal subjects and 24 hypertensive patients. Also, the correlation among PUFAs, levels of antioxidant status, and lipid profiles of the subjects were estimated. RESULTS: The distribution of omega-3 PUFAs, saturated fatty acids, and monounsaturated fatty acids showed significant differences (P<0.05), but that of omega-6 PUFAs did not exhibit significant differences. The omega-6/omega-3 ratio exhibited 36.96 in normal group and 14.29 in the hypertensive patient group. The levels of vitamin A, vitamin E, and MDA were increased significantly in the hypertensive patient group. CONCLUSION: PUFA levels were estimated in the hypertensive patients and normal group. The results suggest that dietary intake of proper omega-6/omega-3 ratio is needed for prevention and treatment of hypertension.

Peroxisomal Disorder-Unusual Presentation as Failure to Thrive in Early Infancy.

Failure to thrive is not uncommon in Paediatric practice and often leads to multiple investigations to find the underlying cause. We report an infant who presented mainly with mild dysmorphism, failure to thrive and elevated Alanine Transferase (ALT) in early infancy. She was diagnosed to have a peroxisomal biogenesis disorder on further investigation. Peroxisomal disorders represent a spectrum of conditions with absent or abnormal function of intra-cytoplasmic organelles called Peroxisomes. Clinical presentation is quite varied, depending on both the type and severity. We describe the clinical presentation of this case, followed by a brief discussion on Peroxisomal disorders.

Clinical profile of adrenoleukodysrophy.

X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. Retrospective evaluation of medical records of ALD patients were carried out. In all the 5 patients the duration of the symptoms varied from 1-7 years. Most of them presented with Addisonian crisis (4/5) and hyperpigmentation (5/5), white half of them (3/5) had neurological symptoms. All patients had biochemical evidence of the adrenal insufficiency. All siblings of patients should be screened for the possibility of ALD with VLCFA.

Adrenoleukodystrophy Presenting as Secondary Erythrocytosis

A 22-year-old man, who had complained of dizziness and morning headaches, was admitted because of persistent polycythemia with elevated erythropoietin. Subsequently during the work-up, he had frequent sleep apneas without respiratory efforts and a brain MRI revealed multiple bilateral leukoencephalopathies without enhancement. Adrenoleukodystrophy was diagnosed by clinical manifestations including adrenal insufficiency, brain imaging, and an elevated very long chain fatty acids (VLCFA) level. We report a case of adolescent cerebral type of adrenoleukodystrophy presenting with central sleep apnea and secondary erythrocytosis.

A Case of Adrenomyeloneuropathy Confirmed by Serum Very Long Chain Fatty Acids Level

A 31-year-old male patient was admitted to the department of neurology for progressive spastic paraparesis and sen-sory deficit in bilateral lower legs. On review of system, he had decreased libido and mild urinary frequency. On neuro-logic examination, he showed paraparesis, lower limb hypesthesia, bilateral hyperactive knee jerk and bilateral positive Babinski sign. The nerve conduction studies were sensori-motor demyelinating polyneuropathy. For spastic paraparesis and peripheral neuropathy, we approached adrenomyeloneuropathy and ascertained elevated serum very long chain fatty acids (VLCFA) level. (J Korean Neurol Assoc 19(4):427~430, 2001)