1/116. Dietary management of long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (LCHADD). A case report and survey.Current dietary management of long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:nad oxido-reductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various dietary manipulations on plasma and urinary laboratory values in a child with LCHADD. In our patient, a diet restricted to 9% of total energy from long-chain fatty acids and administration of 1.5 g medium-chain triglyceride oil per kg body weight normalized plasma acylcarnitine and lactate levels, but dicarboxylic acid excretion remained approximately ten times normal. Plasma docosahexaenoic acid (DHA, 22:6n-3) was consistently low over a 2-year period; DHA deficiency may be related to the development of pigmentary retinopathy seen in this patient population. We also conducted a survey of metabolic physicians who treat children with LCHADD to determine current dietary interventions employed and the effects of these interventions on symptoms of this disease. Survey results indicate that a diet low in long-chain fatty acids, supplemented with medium-chain triclyceride oil, decreased the incidence of hypoketotic hypoglycaemia, and improved hypotonia, hepatomegaly, cardiomyopathy, and lactic acidosis. However, dietary treatment did not appear to effect peripheral neuropathy, pigmentary retinopathy or myoglobinuria.- - - - - - - - - - ranking = 1keywords = fatty (Clic here for more details about this article) |
2/116. The syndrome of carnitine deficiency.Three cases of lipid storage myopathy and carnitine deficiency are presented. Two had a fatal course and were insensitive to cortisone and carnitine-replacement therapy. The two fatal cases had lipid accumulation in organs other than the skeletal muscles and carnitine was reduced in plasma, skeletal muscles, heart and liver. fibroblasts from one of these "generalized" cases of carnitine deficiency were grown from a skin biopsy. carnitine level, fatty acids uptake and oxidation were not appreciably different between the patients' fibroblasts and those of controls.- - - - - - - - - - ranking = 0.33708924182773keywords = fatty, liver (Clic here for more details about this article) |
3/116. Therapeutic plasma exchange in patients with chylomicronemia syndrome complicated by acute pancreatitis.Chylomicronemia syndrome (CMS) is a rare disorder characterized by the presence of chylomicrons in the fasting state causing a milky appearance of plasma, eruptive xanthomas, and hepatosplenomegaly; an acute and potentially life threatening complication is severe acute pancreatitis. The underlying defects are inborn errors of metabolism such as deficiencies of lipoprotein lipase (LPL) or apoprotein C-II (apo C-II) as well as familial hypertriglyceridemia. Moreover, CMS can be precipitated when mild hypertriglyceridemia is exacerbated by additional factors such diabetes mellitus, ethanol abuse, or pregnancy. The purpose of the present study was to retrospectively analyze the results of therapeutic plasma exchange (TPE) in 5 patients transferred to our hospital for severe acute pancreatitis due to chylomicronemia syndrome. In a total of 7 TPE sessions, on average 3,286 /- 247 ml of plasma (i.e., about 1 patient plasma volume) were treated per session. Triglyceride (TG) levels were decreased from 4,972 /- 2,469 mg/dl on admission to 1,614 /- 1,276 mg/dl (-70%) after the TPE sessions, and a further decrease was achieved by conservative treatment. Part of the TG reducing effect of the treatment was probably due to heparin induced lipolysis. Acute pancreatitis was resolved in all cases, and 1 pregnant patient delivered without problems at term. In summary, 1 or 2 TPE sessions sufficed to substantially decrease the bulk of triglycerides in acutely exacerbated chylomicronemia syndrome causing a rapid resolution of acute severe pancreatitis.- - - - - - - - - - ranking = 0.0037559084943967keywords = liver (Clic here for more details about this article) |
4/116. Very long chain acyl coenzyme a dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme a dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic analysis. The patient was a compound heterozygote for mutations in the VLCAD gene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130del ); this allele is of paternal origin. The patient's maternally derived allele is a novel mutation, C1843T in exon 20, which creates a premature termination codon (R615stop ). Although molecular genetic characterization of VLCAD deficiency is limited to a few patients, heterogeneity of mutations is already apparent. However, the E130del is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our patient appear to be responsible for his severe and fatal clinical manifestations.- - - - - - - - - - ranking = 0.33333333333333keywords = fatty (Clic here for more details about this article) |
5/116. delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.A 5-year-old white female presented with coma and died unexpectedly. She had a history of recurrent episodes of febrile illnesses associated with lethargy and coma. Postmortem investigation revealed a fatty liver, leading to a suspicion of inborn error of fatty acid oxidation. The diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was suggested by abnormal acylcarnitine profile with increased octanoylcarnitine in the blood, and confirmed by fatty acid oxidation studies and mutation analysis in skin fibroblast cultures. This case emphasizes the need to consider fatty acid oxidation disorders in all children who present with hypoglycemia with absent or mild ketones in the urine and high anion gap metabolic acidosis.- - - - - - - - - - ranking = 1.7259680986465keywords = fatty liver, fatty, liver (Clic here for more details about this article) |
6/116. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.The spectrum of clinical presentation of fatty acid oxidation defects (FAOD) continues to expand. One FAOD, L-3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency has been associated with liver disease in pregnancies involving a heterozygous mother carrying an affected fetus. Hepatic carnitine palmitoyltransferase (CPT I) deficiency typically presents as a Reyelike syndrome in children between 8 and 18 mo. of age. We have investigated a family in which the mother developed liver disease consistent with acute fatty liver of pregnancy (AFLP) and hyperemesis gravidarum in her two successive pregnancies. Neither child nor their mother was found to carry the common LCHAD G1528C mutation. Both children were subsequently shown to have absent activity of CPT I. This is the first report of CPT I deficiency presenting as maternal illness in pregnancy.- - - - - - - - - - ranking = 1.0668132489686keywords = fatty liver, fatty, liver (Clic here for more details about this article) |
7/116. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: a case example in developmental disabilities.Long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency is a rare autosomal recessive disorder with varied expression, from severe hypoglycemia and possible sudden infant death to neurosensory deficits secondary to the acute onset. The neurosensory deficits can include clinical features such as seizure disorders, mental retardation, neuropathy, and retinopathy. The basic defect is the lack of the LCHAD enzyme in the liver, which is necessary for fatty acid metabolism. The condition is usually precipitated by infection and dehydration. A case example of a preschooler with LCHAD deficiency is presented to show the complexity of this disorder and resultant developmental disabilities. Implications for nursing practice, education, and research are discussed in relation to the needs of families with complex, developmental disabilities.- - - - - - - - - - ranking = 0.33708924182773keywords = fatty, liver (Clic here for more details about this article) |
8/116. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in beta-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neonatal adaptation and the subsequent six months of life and a trial of carnitine supplementation are reported. The rapidity with which long chain fatty acid metabolites can accumulate and induce secondary carnitine deficiency within a few hours after birth in an infant with CATR is noteworthy. CONCLUSION: High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sufficient to avoid secondary carnitine deficiency as in severe forms of CATR. Therefore simultaneous use of insulin and glucose may be necessary to control neonatal lipolysis. carnitine supplementation and the possible adverse effects of MCT systematically administrated, should be further assessed in patients with CATR.- - - - - - - - - - ranking = 0.33333333333333keywords = fatty (Clic here for more details about this article) |
9/116. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child. CONCLUSION: liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occur early in life.- - - - - - - - - - ranking = 0.02253545096638keywords = liver (Clic here for more details about this article) |
10/116. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears (Jordans' anomaly) in patients with ichthyotic erythroderma leads to the diagnosis. In spite of frequent liver, muscle, ear, eye and central nervous system involvement, Dorfman-Chanarin syndrome may present clinically as monosymptomatic ichthyosis. Here, we report clinical and laboratory investigations in a consanguineous family from turkey with 3 affected family members, and demonstrate the lipid vacuoles in epidermal Langerhans' cells for the first time. Langerhans' cell phenotyping suggests that the skin inflammation is due to the gene defect and not to underlying atopic dermatitis. Microscopic examination of eosinophils for lipid vacuoles to identify conductors revealed variable percentages of normal and vacuolized eosinophils in conductors, suggesting the microscopic analysis of at least 10 eosinophils for conductor identification.- - - - - - - - - - ranking = 0.0037559084943967keywords = liver (Clic here for more details about this article) |
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