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 |
Ссылки:
- Gene: [02q3/ACADL] acyl-CoA dehydrogenase L (fatty acid long straight-chain C8 to C16); hypoglycemia, intermittent non-ketotic (LCAD deficiency); dicarboxylicaciduria (LCAD deficiency);
- Gene: [12q2/ACADS] acyl-CoA dehydrogenase S (FA short straight-chain C2/C6); butyryl-CoA dehydrogenase (ethylen reductase); lipid-storage myopathy, secondary to SCADh deficiency;
- Gene: [0X^/ECHD] enoyl-CoA hydratase (3-hydroxyacyl-CoA hydro-lyase);
