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
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