Details of Disease

General Information of Disease (ID: DISRAMPH)

Disease Name Glutaryl-CoA dehydrogenase deficiency
Synonyms
glutaric acidemia 1; glutaric acidemia, type 1; glutaric aciduria type I; glutaric acidemia I; glutaric aciduria 1; glutaric acidemia type I; Ga 1; glutaric acidemia type 1; glutaryl-CoA dehydrogenase deficiency; glutaric aciduria type 1; glutaryl-coenzyme A dehydrogenase deficiency; glutaricaciduria, type I; glutaric aciduria, type 1; GA1; GCDHD
Definition
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISB7ID3: Inborn organic aciduria
DISGE8NR: Glutaric aciduria
DISRAMPH: Glutaryl-CoA dehydrogenase deficiency
Disease Identifiers
MONDO ID
MONDO_0009281
MESH ID
C536833
UMLS CUI
C0268595
OMIM ID
231670
MedGen ID
124337
Orphanet ID
25
SNOMED CT ID
360416003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DHTKD1 OTDQLSNT Limited Biomarker [1]
SYCE2 OTH8BT51 Strong CausalMutation [2]
GCDH OTVQMZZN Definitive Autosomal recessive [3]
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References

1 Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2220-2228. doi: 10.1016/j.bbadis.2017.05.018. Epub 2017 May 22.
2 Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.Biomed Res Int. 2016;2016:4074365. doi: 10.1155/2016/4074365. Epub 2016 Sep 8.
3 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.