KEGG   DISEASE: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Entry
H00179                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00179  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H00179  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Pathway
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024 Valine, leucine and isoleucine degradation
Gene
HMGCL [HSA:3155] [KO:K01640]
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system