pediatrics
Beta Oxidation Cycle Disorders
Glutaric acidemia type II
A defect in the transfer of electrons from the coenzyme of fatty acyl dehydrogenases to the electronic transport chain affects reactions involving fatty acids of all chain lengths (multiple acyl-coA dehydrogenase deficiency); oxidation of several amino acids is also affected. Clinical manifestations thus include fasting hypoglycemia, severe metabolic acidosis, and hyperammonemia. Diagnosis of glutaric acidemia type II is by increased ethylmalonic, glutaric, 2- and 3-hydroxyglutaric, and other dicarboxylic acids in organic acid analysis, and glutaryl and isovaleryl and other acylcarnitines in tandem mass spectrometry studies. DNA analysis can be confirmatory. Treatment of glutaric acidemia type II is similar to that for MCADD, except thatriboflavinmay be effective in some patients. 