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 ?
3] Nonstandard abbreviations: MADD, multiple acyl-CoA dehydrogenase deficiency; ETF, electron transfer flavoprotein; ETF:QO, ETF dehydrogenase; GA II, glutaric aciduria type II; GAI, glutaric aciduria type I; D-2-HGDH, D-2-hydroxyglutaric acid dehydrogenase; C4, butyrylcarnitine; C5, 2-methylbutyrylcarnitine; C5-DC, glutarylcarnitine; C6, hexanoylcarnitine; C8, octanoylcarnitine; C12, dodecanoylcarnitine; C14, myristoylcarnitine; C16, palmitoylcarnitine.
15) For GA II, see note 2, above; Jeffrey Gros, Thomas F.
18) Anglican-Orthodox Dialogue, "Agreed Statement" (1984), preface, in GA II, p.
A challenge to this reading is Aristotle's account of the development of the embryo in GA II.
Again, in GA II 4, Aristotle explicitly refers to a thing's nature as the 'poiousa dunamis' that is responsible for constructing its parts in the very beginning (740b35).
This interpretation is consistent with Aristotle's view in GA II.
The new service will be offered on the Illumina GA II and will include the following applications: Shotgun Sequencing, ChIP Seq, mRNA Seq and small RNA Seq.
26) See also PA I 1, 641a18-20 and GA II 5, 741a10-13.
Fluidigm Corporation today announced the release of its amplicon tagging protocol for the Illumina GA II next-generation sequencer.
SureSelect Human All Exon kits will be available for both the Illumina GA II and Life Technologies SOLiD System, with the initial product offered for paired-end sequencing on the system from Illumina.