combined D-2- and L-2-hydroxyglutaric aciduria

A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound hetero

A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21.

Signs and symptoms

• Seizure
• Global developmental delay
• Hypotonia
• L-2-hydroxyglutaric aciduria
• Increased urine succinate level
• Increased urine alpha-ketoglutarate concentration
• Encephalopathy
• Cerebellar hypoplasia
• Stridor
• Feeding difficulties

Also known as: D,L-2-HGA; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria; combined D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia