Details of Disease

General Information of Disease (ID: DISOWG8Z)

• Disease Name: 3-methylglutaconic aciduria type 1
• Synonyms: 3-methylglutaconyl-CoA hydratase deficiency (auh defect); Mga, type 1; MGCA1; 3-methylglutaconyl-Coa hydratase deficiency; 3-Methylglutaconic aciduria, type 1; 3 methylglutaconic aciduria type 1; 3 alpha methylglutaconic aciduria type I; 3-MGCA type I (3-MGCA-1); 3MG CoA hydratase deficiency; 3-Mg-Coa-hydratase deficiency; 3-METHYLGLUTACONIC aciduria, type I; 3 methylglutaconyl CoA hydratase deficiency; MGA1; AUH 3-methylglutaconic aciduria; auh 3-methylglutaconic aciduria; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency; 3-methylglutaconic aciduria caused by mutation in auh; 3-methylglutaconic aciduria type 1; MGA type I; 3-methylglutaconic aciduria type I; 3-methylglutaconic aciduria caused by mutation in AUH
• Definition: 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
• Disease Hierarchy:
  DIS8G1WP: 3-methylglutaconic aciduria
  DISOWG8Z: 3-methylglutaconic aciduria type 1
• Disease Identifiers:
  MONDO ID: MONDO_0009610
  MESH ID: C562801
  UMLS CUI: C0342727
  OMIM ID: 250950
  MedGen ID: 90994
  Orphanet ID: 67046
  SNOMED CT ID: 237951008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CUBN	TT9YLCR	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AUH	OT8VKBXX	Definitive	Autosomal recessive	[2]

References

• [1] 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.Pediatr Neurol. 2004 Mar;30(3):213-5. doi: 10.1016/j.pediatrneurol.2003.09.016.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.