glutaric acidemia

Pathology

• gliosis & neuronal loss in basal ganglia

Genetics

• autosomal recessive (type 1)
• associated with defects in GCDH gene (type 1)

Clinical manifestations

• progressive dystonia & athetosis
• 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

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/231670