Hyperammonaemia
Gene: HMGCL
HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
3-Hydroxy-3-methylglutaryl coenzyme A lyase catalyzes the cleavage of HMG-CoA to acetoacetic acid and acetyl-CoA, the last step of both ketogenesis and leucine catabolism. It is located in both the mitochondrial matrix and the peroxisomes. The disorder causes metabolic acidosis without ketonuria, hypoglycaemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonaemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting. Well established gene-disease association. Large gene deletions reported.Created: 3 Jan 2021, 11:30 p.m. | Last Modified: 3 Jan 2021, 11:30 p.m.
Panel Version: 0.5896
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, MIM# 246450
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Expert Review Green
- Victorian Clinical Genetics Services
- Tags
- OMIM
- 613898
- Clinvar variants
- Variants in HMGCL
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
History Filter Activity
26 Sep 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: HMGCL.
29 Jan 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HMGCL was added gene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal