glutaric aciduria type 1
Sign in to saveAlso known as glutaryl-CoA dehydrogenase deficiency, GA1, glutaric acidemia type 1, GCDHD, GLUTARIC ACIDEMIA I, Glutaryl-coenzyme A dehydrogenase deficiency, Glutaric Aciduria 1, Ga 1
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
In the Vinony graph
Vinony's link graph records 97 inbound references to glutaric aciduria type 1, and connects out to Canada, brain and amino acid.
Vinony files it under Amino acid metabolism disorders, Autosomal recessive disorders and Mitochondrial diseases.
Vinony links it to 12 Wikipedia language editions.
Research
413 papers- Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.Journal of inherited metabolic disease · 2023
- Exploring genotype-phenotype correlations in glutaric aciduria type 1.Journal of inherited metabolic disease · 2023
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.European journal of pediatrics · 2024
- Glutaric Aciduria Type 1.Radiographics : a review publication of the Radiological Society of North America, Inc · 2023
- Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging.AJNR. American journal of neuroradiology · 2023
via PubMed
Wikidata facts
- Image
- Glutaric acid.png
Show 8 more facts
- Commons category
- Glutaric aciduria type 1
- exact match
- www.orpha.net/ORDO/Orphanet_25
- ICD-9-CM
- 270.7
- health specialty
- endocrinology
- NCI Thesaurus ID
- C99101
- genetic association
- GCDH
- external data available at URL
- www.nanbyou.or.jp/entry/4831
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (7)
via Wikidata · CC0