Details of Disease

General Information of Disease (ID: DISGE8NR)

Disease Name Glutaric aciduria
Synonyms glutaric aciduria (disease); glutaric aciduria; glutaric acidemia
Definition Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency
Disease Hierarchy
DIS71G5H: Metabolic disorder
DISGE8NR: Glutaric aciduria
Disease Identifiers
MONDO ID
MONDO_0000129
UMLS CUI
C0268594
MedGen ID
75695
HPO ID
HP:0003150
SNOMED CT ID
28987007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCDH OTVQMZZN Strong Biomarker [1]
SUGCT OTA8L0TN Strong Genetic Variation [2]
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References

1 Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria.Clin Chim Acta. 1978 Sep 1;88(2):267-76. doi: 10.1016/0009-8981(78)90431-x.
2 Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.Eur J Med Genet. 2018 Jul;61(7):388-392. doi: 10.1016/j.ejmg.2018.02.004. Epub 2018 Feb 5.