Gene: [0X^/ACADX] acyl-CoA dehydrogenase X, multiple deficiency; glutaric aciduria II, neonatal form (GA IIA);

COM

Until the final verification of the data on acyl-CoA dehydrogenases and their genes (see GEM:01p31/ACADM), the GEM catalogue adopts the symbol ACADX for the putative X-linked form of this enzyme."

FUN

Acyl-CoA dehydrogenase participates in beta-oxidation of fatty acids. It functions in complex with electron transfer flavoprotein (GEM:15q2/ETFA)."

FAG

On other enzymes of acyl-CoA dehydrogenase group, see GEM:01p31/ACADM.

HET

[1] The classification of clinical genetic forms of mitochondrial beta-oxidation is complicated due to incomplete data on enzymes participating in beta-oxidation of fatty acids and on their genes. On the numerous genetic disturbances of mitochondrial beta-oxidation of fatty acids, see 01p31/ACADM.
[2] Several forms of glutaric aciduria are known: glutaric aciduria I, GEM:19p132/GCDH (MIM:231670); glutaric aciduria IIB, GEM:15q2/ETFA (MIM:231680); and glutaric aciduria IIC?, GEM:19q134/ETFB. Forms IIA and IIb are connected with the increased excretion of not only glutaric but also other carbonic acids (ethylmalonic, isovaleric, valeric, lactic, etc.). For this reason, these forms often are called, not quite correctly, 'the multiplicated acyl-CoA dehydrogenase deficiency'.
[3] Pronounced clinical differences between forms I, IIA, and IIB do not inevitably exclude the suggestion that some of them are allelic. This might be analogous to the situation with Duchenne and Becker types of muscular dystrophy, which appeared to be the allelic forms of a single gene coding for distrophin (see GEM:0Xp212/DMD)."

REF

PHE,PAT,MEB,FOG "Amendt, Rhead: J Clin Invest, 78, 205-213, 1986
PHE,PAT,MEB,FOG "Bohm &: Eur J Pediatr, 139, 60-65, 1982
PHE,PAT,MEB,FOG "Coude &: Hum Genet, 59, 263-265, 1981
PHE,PAT,MEB,FOG "Dubiel &: J Clin Invest, 72, 1543-1552, 1983
PHE,PAT,MEB,FOG "Gregersen &: J Inherit Metab Dis, 3, 67-72, 1980
PHE,PAT,MEB,FOG "Lehnert &: Eur J Pediatr, 139, 56-59, 1982
PND "Mitchell &: Lancet, 1, 1099, 1983
PHE,PAT,MEB,FOG "Moon, Rhead: J Clin Invest, 79, 59-64, 1987
PHE,PAT,MEB,FOG "Niederwieser &: Helv Paediat Acta, 38, 9-26, 1983
REV,MEB,PAT,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987

KEY

neu, mtbd, mito

CLA

coding, basic

LOC

0X

MIM

?

EZN

ENZYME: 1.3.99.3

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