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GENATLAS PHENOTYPE |
last update : 22-03-2017 |
Symbol | HMGCLD |
Location | 1p36.11 |
Name | HMG-CoA lyase deficiency |
Other name(s) | hydroxymethyl aciduria |
Corresponding gene | HMGCL |
Main clinical features |
|
Genetic determination | autosomal recessive |
Prevalence | <1/100000 |
Function/system disorder | metabolism/organic acid |
Type | disease |
Gene product |
Name | 3-hydroxy-3-methylglutaryl-CoA lyase, homodimeric mitochondrial matrix enzyme (HMGCL) |
Remark(s) |