Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

ABSTRACT:

Background

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. The clinical picture of late-onset forms is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases.

Methods

All 350 cases of late-onset MADD reported in the literature to date have been analyzed and evaluated with respect to age at presentation, diagnostic delay, biochemical features and diagnostic parameters as well as response to treatment.

Results

Mean age at onset was 19.2 years. The mean delay between onset of symptoms and diagnosis was 3.9 years. Chronic muscular symptoms were more t

SUBMITTER: Grunert SC 

PROVIDER: S-EPMC4222585 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature