PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

PND General Information

Return to PND Info Home

 

PNDDB - Pediatric Neurotransmitter Diseases


PNDDB - Antiquitin deficiency


OMIM 107323


Locus: 5q31
Gene: ALDH7A1

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: