Conditions / Genetic
glycine encephalopathy 1
info · Genetic
A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.
Signs and symptoms
- Lethargy
- Encephalopathy
- Hyporeflexia
- Seizure
- Hyperglycinemia
- Hypotonia
- Agenesis of corpus callosum
- Generalized hypotonia
- Impulsivity
- Recurrent singultus
Also known as: GCE1