Fatty infiltration in the liver in medium chain acyl CoA dehydrogenase deficiency.
نویسندگان
چکیده
منابع مشابه
Fatty infiltration in the liver in medium chain acyl CoA dehydrogenase deficiency.
Fatty infiltration of the liver at postmortem examination has been recommended as a criterion for selection of infants who have died suddenly and unexpectedly for further biochemical investigation for disorders of fatty acid oxidation. We describe a boy with medium chain acyl CoA dehydrogenase deficiency who died four months after diagnosis and in whom only minimal hepatic fatty infiltration wa...
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 کامل[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 ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1991
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.66.6.727