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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)