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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References in periodicals archive ?

MADD was initially referred to as glutaric aciduria type II (GA II) to distinguish it from glutaric aciduria type I (GA I).

[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

Rusch, eds., Growth in Agreement II: Reports and Agreed Statements of Ecumenical Conversations on a World Level 1982-1998, Faith and Order Paper 187 (Geneva: WCC Publications; and Grand Rapids, MI, and Cambridge, U.K.: William Eerdmans Publishing Co., 2000) (hereafter, GA II), p.

(15) For GA II, see note 2, above; Jeffrey Gros, Thomas F.

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.6, which appears to appeal primarily to material and mechanistic causes.

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.5 that females have the same soul as the male (741a7) as well as the argument in Metaphysics X.9 that sexual difference is not part of the species form but is an affection arising from the matter (1058b21-4).

Phronesis: Vol. 52, No. 3, July 2007

Ngoka ogo ga ii omathimbo omadhimbulithi omawanawa mokukalamwenyo kwandje moshinyanyangidho, molwaashoka konima owala sho nda lesha oshinyolwa shika onde shi tseya kutya otashi ka kala oshinyolwa tashi shambula aaleshi, notashi ka kala esimano enene kependulepo lyuunamambo moNamibia, oshoka embo ndika olya guma iinima mbyoka yasimana monkalamwenyo yaakiintu moshigwana shaNamibia.

Okangala kokOshaantu; omunyoli: Neshani Andreas

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

Glutarylcarnitine (C5-DC) is the primary marker for GA I and a secondary marker for GA II. The flag for C5-DC was set at 8 SD above the population mean.

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

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