disease 2,269 words KG: ent-dise-e4dec9e8
Contents

Glutaric Aciduria Type I (GA1)

Disease Info
OMIM231680
PrevalenceApproximately 1 in 100,000 to 1 in 150,000 live births[@boneh2006]
InheritanceAutosomal recessive
Also Known AsGlutaric Acidemia Type I, GCDH deficiency, GA I
ClassificationInherited metabolic disorder / Organic acidemia / Neurodegenerative disorder
ICD-10 CodeE72.3
GeneGCDH (Glutaryl-CoA Dehydrogenase)
High excretor phenotypeAssociations with severe variants and higher glutaric acid excretion
Low excretor phenotypeOften associated with variants that retain partial enzyme function
DystoniaPresent in up to 75% of patients, often severe and progressive
DatabasesOrphanetClinicalTrialsPubMed

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