Conditions / Genetic
oxoglutarate dehydrogenase deficiency
info · Genetic
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate de
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.
Signs and symptoms
- Dystonia
- Hypotonia
- Increased circulating lactate concentration
- Bilateral tonic-clonic seizure
- Delayed speech and language development
- Dysmetria
- Gait ataxia
- Rigidity
- Delayed gross motor development
- Motor delay
Also known as: Oxoglutaric aciduria; alpha-ketoglutarate dehydrogenase deficiency