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GENATLAS PHENOTYPE

last update : 12/06/2006

Symbol	ACADL
Location	2q34
Name	acyl-CoA dehydrogenase, long chain, deficiency
Corresponding gene	ACADL
related resource	MITOP database
Main clinical features	dicarboxylic aciduria, non ketotic hypoglycemia, Reye-like syndrome, sudden infant death syndrome, in early childhood, episodes of cardiorespiratory arrest associated with fasting, hepatomegaly, cardiomegaly, and hypotonia, total plasma carnitine concentration low, suggesting a defect in mitochondrial fatty acid oxidation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	acyl CoA dehydrogenase, long chain (ACADL)