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Locus: 9p22 |
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Gene: GLDC |
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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). |
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Reaction: Glycine > (THF) > NH3 + CO2 |
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DD: Mild to severe neonatal and late-onset NKH |
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Diagnosis: CSF, Blood, Urine, DNA
CSF, Urine and Plasma: Glycine (high)
CSF/Plasma ratio (high)
DNA: see PNDDB
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Clinical signs & symptoms:
Seizures
Spasticity
Hypotonia
Lethargy or coma
Retardation
Abnormal EEG (burst suppression) |
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Treatment:
Sodium benzoate 250-750 mg/kg/d
Folinic acid 15 mg/d
Dextromethorphan 3.5-22.5 mg/kg/d |
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Alternative treatment:
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