Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency
نویسندگان
چکیده
منابع مشابه
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal symptoms. To determine the validity of this, all known MCAD cases from New South Wales were reassessed. A total of 16 confirmed and three presumed cases has been identified in New South Wales, from 15 families. The casenotes of patients were reviewed, and where possible t...
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 ...
متن کاملVery-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.
Fatty acid oxidation (FAO) defects are inborn errors of metabolism clinically associated with cardiomyopathy and sudden infant death syndrome (SIDS). FAO disorders often present in infancy with myocardial dysfunction and arrhythmias after exposure to stresses such as fasting, exercise, or intercurrent viral illness. It is uncertain whether the heart, in the absence of stress, is normal. We gene...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2001
ISSN: 0003-9942
DOI: 10.1001/archneur.58.5.811