Aminoacidopathy
Gene: AUHEnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic paediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood.
More than 5 unrelated families reported.Created: 29 Dec 2021, 9:16 p.m. | Last Modified: 29 Dec 2021, 9:16 p.m.
Panel Version: 0.10389
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, MIM# 250950
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- 3-methylglutaconic aciduria type 1 MONDO:0009610
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Aminoacidopathy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Optic Atrophy
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: auh has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: AUH were set to 29152456
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: auh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AUH was added gene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 29152456 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610