Skip to Main Content
  • Become an Access Reviewer
  • Clinical Phenotypes
  • OMMBID Advisory banner
  • Ommbid banner
  • Ommbid latest banner



  1. Electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF-QO) are nuclear encoded proteins through which electrons from flavoprotein acyl CoA dehydrogenases, dimethylglycine dehydrogenase, and sarcosine dehydrogenase enter ubiquinone in the respiratory chain. Inherited defects of either protein cause glutaric acidemia type II.

  2. Glutaric acidemia type II is characterized clinically by hypoketotic hypoglycemia and metabolic acidosis; pathologically by fatty infiltration of the liver, heart, and kidneys; and biochemically by a diagnostic organic aciduria. Complete enzyme defects, especially of ETF-QO, are often associated with multiple congenital anomalies, including renal cystic dysplasia, and death in infancy.

  3. Primary defects of ETF-QO and those of either ETF subunit are inherited as autosomal recessive traits. Several pathogenic mutations have been identified in the genes for ETF-QO and the α-ETF subunit. No single ETF-QO mutation is common, but of six that have been identified in the α-ETF gene, αT266M may account for about 40 percent of mutant alleles.

  4. Prenatal diagnosis of glutaric acidemia type II is possible in some cases by demonstrating increased concentrations of glutaric acid in amniotic fluid, acylcarnitine esters in maternal urine, or impaired substrate oxidation by cultured amniocytes.

  5. There is no effective treatment for glutaric acidemia type II patients who present in early infancy. Treatment with riboflavin, glycine, and L-carnitine and diets restricted in fat and protein may be effective in less severely affected patients.

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

OMMBID Full Site: One-Year Subscription

Connect to the full suite of OMMBID content including new and revised chapters that reflect the latest research, image galleries, clinical phenotypes, and more.

$295 USD
Buy Now

Pay Per View: Timed Access to all of OMMBID

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.