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GENATLAS PHENOTYPE
last update : 10/12/2008
Symbol GA1
Location 19p13.2
Name glutaric acidemia 1
Corresponding gene GCDH
Main clinical features
  • characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life, development of striatal lesions that leave permanently disabled
  • opisthotonos, dystonia, and athetoid posturing, frontotemporal atrophy on computerized tomography (CT), and high levels of glutaric acid were seen in the spinal fluid
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function loss of activity of mutant p.Met263Val suggests that the Met263-mediated formation of 130 and/or 200 kDa protein complexes might function in regulation of enzymatic activity (Keyser 2008)
    Remark(s) . reduced intramitochondrial stability as well as the impaired formation of homo- and heteromeric GCDH complexes can underlie GA1 (Keyser 2008)