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 ?
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.
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.
Bailie's daughter, Cassidy, suffered permanent brain damage at 17 months-old due to glutaric acidemia type I (GA-I), a disorder detectable through comprehensive NBS, but was only recently developed at the time of her birth and not screened for in VA.
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).
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.
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.
Glutaric Acidemia Type I--This enzyme deficiency disorder is characterized by hypoglycemia, dystonia, and dyskinesia.
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.
3) Nonstandard abbreviations: 1EMs, inborn errors of metabolism; PKU, phenylketonuria; CAMPA, computer-assisted metabolic profiling algorithm; ESI-MS/MS, electrospray tandem mass spectrometry; FAB-MS/MS, fast atom bombardment tandem mass spectrometry; FDI, functions of diagnostic interest; MDI, masses of diagnostic interest; RDI, (peak) ratios of diagnostic interest; and GA-I/II, glutaric acidemia type I/II.