| H00179 | |
| H number | H00179 |
| Name | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency |
| Description | 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures. |
| Category | Inherited metabolic disorder |
| Network | nt06024(H00179) Valine, leucine and isoleucine degradation |
| Gene | HMGCL [HSA:3155] [KO:K01640] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.02 ICD-10: E71.1 MeSH: C538324 OMIM: 246450 |
| Reference | PMID:17692550 AUTHORS Pie J, Lopez-Vinas E, Puisac B, Menao S, Pie A, Casale C, Ramos FJ, Hegardt FG, Gomez-Puertas P, Casals N TITLE Molecular genetics of HMG-CoA lyase deficiency. JOURNAL Mol Genet Metab 92:198-209 (2007) DOI:10.1016/j.ymgme.2007.06.020 PMID:10371384 AUTHORS Yalcinkaya C, Dincer A, Gunduz E, Ficicioglu C, Kocer N, Aydin A TITLE MRI and MRS in HMG-CoA lyase deficiency. JOURNAL Pediatr Neurol 20:375-80 (1999) DOI:10.1016/S0887-8994(99)00013-2 |