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glutaric acidemia
Pathology:
- gliosis & neuronal loss in basal ganglia
Genetics:
- autosomal recessive (type 1)
- associated with defects in GCDH gene (type 1)
Clinical manifestations:
1) progressive dystonia & athetosis
2) acrocephaly is often seen at birth
Laboratory:
- increased:
- 24 hour urine glutarate
- 24 hour urine 3-hydroxyglutarate
- 24 hour urine glutaconate
- GCDH gene mutation (type 1)
Notes: in reference to glutaric acidemia type 1
General
inborn error of metabolism
Database Correlations
OMIM 231670
References
OMIM :accession 231670