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Browse result for Glutaric acidemia I

※ introduction

    An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.

Reference
DiseaseOntology: Glutaric acidemia I



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00902P313271373
CPS1
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Homo sapiens