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.
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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.
A Term Newborn with Respiratory Distress, Acidosis, and Hypoglycemia
15) For GA II, see note 2, above; Jeffrey Gros, Thomas F.
18) Anglican-Orthodox Dialogue, "Agreed Statement" (1984), preface, in GA II, p.
The Holy Spirit and lived communion from the perspective of international bilateral dialogues
A challenge to this reading is Aristotle's account of the development of the embryo in GA II.
Allan Gotthelf: Teleology, First Principles, and Scientific Method in Aristotle's Biology
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).
Organismal natures
This interpretation is consistent with Aristotle's view in GA II.
Phronesis: Vol. 52, No. 3, July 2007
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.
Expression Analysis[R] Expands Sequencing Services
A 36-cycle run was performed on the Illumina GA II.
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection
26) See also PA I 1, 641a18-20 and GA II 5, 741a10-13.
Substantial unity and living things in Aristotle
Fluidigm Corporation today announced the release of its amplicon tagging protocol for the Illumina GA II next-generation sequencer.
Fluidigm Releases Access Array[TM] System Amplicon Tagging Protocol for Illumina GA II Users
Glutarylcarnitine (C5-DC) is the primary marker for GA I and a secondary marker for GA II.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program
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.
TRADE NEWS: Agilent Technologies Adds Human Exon Kit to Next-Generation-Sequencing Target Enrichment Portfolio

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