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GENATLAS PHENOTYPE

last update : 16/06/07

Symbol	ACAD9D
Location	3q21.3
Name	Acyl-CoA dehydrogenase 9 deficiency
Corresponding gene	ACAD9
Main clinical features	recurrent episodes of acute liver dysfunction and hypoglycemia, cardiomyopathy, with otherwise minor illnesses, with elevated lactate and ketones with dicarboxylic and hydroxydicarboxylic acids in urines
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

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