Gene: GLDC

Enzyme: Glycine cleavage system (EC 2.1.2.10)
Deficiency of P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), or L protein (a lipoamide dehydrogenase).

Reaction: Glycine > (THF) > NH₃ + CO₂

DD: Mild to severe neonatal and late-onset NKH

Diagnosis: CSF, Blood, Urine, DNA
CSF, Urine and Plasma: Glycine (high)
CSF/Plasma ratio (high)
DNA: see PNDDB

Clinical signs & symptoms:
Seizures
Spasticity
Hypotonia
Lethargy or coma
Retardation
Abnormal EEG (burst suppression)

Treatment:
Sodium benzoate 250-750 mg/kg/d
Folinic acid 15 mg/d
Dextromethorphan 3.5-22.5 mg/kg/d

Alternative treatment:

Literature:
Diagnosis
Treatment