glutaric acidemia type 2

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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 ?
They concluded that only 5 disorders [BIO, CAH, MCAD, glutaric acidemia type I (GA-I), and PKU] showed adequate fulfilment of the screening criteria to be considered for inclusion in expanded NBS programs.
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.
Defects of electron transfer flavoprotein and electron transfer falvoprotein ubiquinone oxidoreductase: glutaric acidemia type II.
2 shows the acylcarnitine profile of a newborn with glutaric acidemia type I (GA-1), obtained using butyl esterification during sample preparation, whereas the bottom panel shows an acylcarnitine profile of the same newborn obtained without butyl esterification.
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.
Their group focuses on Michael's specific organic acidemia, glutaric acidemia type 1, a disorder that has a high incidence rate in the Amish community.
The recognition of MADD, also known as glutaric acidemia type 11, is the most challenging of the inherited metabolic disorders to identify in the postmortem specimen.
In one case, a substantial increase of C5DC was found that suggested glutaric acidemia type I (GA-1).
Glutaric Acidemia Type II--Multiple Acyl-CoA Dehydrogenase Deficiency--This disorder manifests in three forms; the neonatal is most serious and often fatal within a few weeks.
Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II.
increased glutarylcarnitine in glutaric acidemia type I (GA-I), for most of these disorders several metabolites were found to be increased.