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PNDDB - Antiquitin deficiency
OMIM 107323
Enzyme: Alpha-Aminoadipic-semiladehide (EC 1.2.1.31)
Reaction: Alpha-Aminoadipic semialdehyde > > Alpha-Aminoadipic acid
DD:
Diagnosis: CSF, Blood, Urine, DNA CSF: Pipecolic acid (high), AASA (high), Glu (high), free GABA (low) Urine: AASA (high) Plasma: Pipecolic acid (high), AASA (high) DNA: see PNDDB
Clinical signs & symptoms: Neonatal epileptic encephalopathy
Treatment: B6 <100 mg i.v.
Alternative treatment: