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Summary
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
PNPO
610090
OMIM = Online Medalian Inheritance of Men
17q21.31
  • pyridoxal-5-phosphate
rare
symptoms
encephalopathy
onset, newborn
prematurity
seizures
laboratory finding
Lactate normal/increasedblood
Glycine increasedplasma
Threonine increasedplasma
Glycine increasedspinal fluid
Threonine increasedspinal fluid
Literature
Megighian DSavastano MWolfram syndromeInt J Pediatr Otorhinolaryngol682243-2472004