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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Related Hypotheses (10)

Senescent Cell Mitochondrial DNA Release
Score: 0.74
Near-infrared light therapy stimulates COX4-dependent mitoch
Score: 0.74
TFAM overexpression creates mitochondrial donor-recipient gr
Score: 0.73
Mitochondrial Transfer Pathway Enhancement
Score: 0.70
RAB27A-dependent extracellular vesicle engineering for mitoc
Score: 0.67
GAP43-mediated tunneling nanotube stabilization enhances neu
Score: 0.67
Mitochondrial RNA Granule Rescue Pathway
Score: 0.66
Mitochondrial SPM Synthesis Platform Engineering
Score: 0.65
Designer TRAK1-KIF5 fusion proteins accelerate therapeutic m
Score: 0.62
CX43 hemichannel engineering enables size-selective mitochon
Score: 0.57

Related Analyses (3)

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

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