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PNDDB - SSADH deficiency
OMIM 271980
Enzyme: Monoamine oxidase A (EC 1.2.1.24)
Reaction: Succinic semialdehyde > (B6) > Succinate
DD:
Diagnosis: CSF, Urine, DNA CSF: Total GABA (high), 3-Hydroxyburytic acid (high), 4,5-Dihydroxyhexanoic acid (high) Urine: 3-Hydroxyburytic acid (high), 4,5-Dihydroxyhexanoic acid (high) DNA: see PNDDB
Clinical signs & symptoms: Ataxia Mental retardation Absent speach Seizures
Treatment: Vigabatrin 50-100 mg/kg/d - 2 doses/day
Alternative treatment: GHB receptor antagonists (animal model)