glutaric acidemia type 2

(redirected from Glutaric acidemia type II)

glutaric acidemia type 2

An autosomal recessive disorder (OMIM:231680) of fatty acid, amino acid and choline metabolism. It is characterised by multiple acyl-CoA dehydrogenase deficiencies resulting in marked excretion of glutaric acid, as well as lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric and isovaleric acids.  Glutaric acidemia type 2 is divided into three subunits:
(1) Glutaric acidemia 2A (OMIM:608053);
(2) Glutaric acidemia 2B (OMIM:231680); and
(3) Glutaric acidemia 2C (OMIM:231675).
 
Molecular pathology
Defects in genes ETFA, ETFB and ETFDH, which are involved in electron transfer in the mitochondrial respiratory chain, cause glutaric acidemia type 2A, 2B and 2C, respectively.
References in periodicals archive ?
MADD, also referred to as glutaric acidemia type II (GA-II), is characterized by variable acylcarnitine profiles that in addition to increases in medium-chain acylcarnitines such as C8 (see Fig.
The criteria for presumption of GA-I are based on the observation of an increased C5DC together with the lack of other increased acylcarnitines that may indicate other metabolic disorders, such as glutaric acidemia type II.
Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II.