disease 2,269 words KG: ent-dise-e4dec9e8 2026-03-20
kind:diseasesection:diseasesstate:published
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

Knowledge Graph

Related Hypotheses (10)

Senescent Cell Mitochondrial DNA Release
Score: 0.54
Near-infrared light therapy stimulates COX4-dependent mitoch
Score: 0.51
TFAM overexpression creates mitochondrial donor-recipient gr
Score: 0.47
Mitochondrial Transfer Pathway Enhancement
Score: 0.44
CX43 hemichannel engineering enables size-selective mitochon
Score: 0.41

Related Analyses (3)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (12)

Animal Model Comparison for Neurodegenerative Disease Therap
clinical · proposed · Score: 0.40
Endocannabinoid System Dysfunction Validation in Parkinson's
clinical · proposed · Score: 0.40
Glymphatic-Circadian Axis Enhancement Therapy for Parkinson'
clinical · proposed · Score: 0.40
Gut Microbiome-Derived Metabolites in Alpha-Synuclein Propag
clinical · proposed · Score: 0.40
Neural Oscillation Dysfunction Validation in Parkinson's Dis
clinical · proposed · Score: 0.40