Gene: ALDH5A1

Enzyme: Succinic semialdehyde dehydrogenase (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)

Literature:
Diagnosis
Treatment