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GENATLAS PHENOTYPE

last update : 24-06-2011

Symbol	ETFDH
Location	4q32.1
Name	glutaric acidemia, type II
Other name(s)	glutaric aciduria II C multiple acyl-CoA dehydrogenase deficiency
Corresponding gene	ETFDH
related resource	MITOP database
Other symbol(s)	MADD
Main clinical features	fatal neonatal acidosis and hypoglycemia with a strong 'sweaty feet' odor, and large amounts of glutaric acid in the blood and urine, risk of sudden death cardiomyopathy frequent, as well as in primary disorders of fatty acid oxidation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	electron transfer protein dehydrogenase (ETFDH)

Remark(s)

. mutations are associated with a riboflavin-sensitive impairment of ETFDH activity (Olsen 2007)