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BIODEF BIOMDB BIOPKU JAKE Literature Zurich

PNDDB - Antiquitin deficiency

OMIM 107323

Locus: 5q31

Gene: ALDH7A1

Enzyme: Alpha-Aminoadipic-semiladehide dehydrogenase (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:

Literature:
 

 


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