Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome
نویسندگان
چکیده
منابع مشابه
[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].
common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...
متن کامل[Medium-chain acyl-CoA dehydrogenase deficiency].
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a...
متن کاملMedium chain acyl-CoA dehydrogenase deficiency
From 65 reported cases of medium chain acylCoA dehydrogenase deficiency, we found an average presenting age of 13-5 months and a mean age at death of 18-5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a ...
متن کاملanesthetic considerations in medium-chain acyl-coa dehydrogenase deficiency
in the 1980’s, medium-chain acyl-coa dehydrogenase deficiency (mcadd) was first described in the literature as three children who presented with coma, hypoglycemia, hyperammonemia, and fatty liver while fasting. these symptoms while similar to reye’s syndrome, were found to be due to an inability to metabolize medium chain fatty acids during fasting periods. fatty acids are utilized by the body...
متن کاملMedium chain acyl-CoA dehydrogenase deficiency in a premature infant
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. ...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 1985
ISSN: 0022-3476
DOI: 10.1016/s0022-3476(85)80237-7