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Summary
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (PNPO)
PNPO SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
610090
OMIM = Online Medalian Inheritance of Men
79096
17q21.32
  • pyridoxal-5-phosphate
rare
autosomal recessive
mutation in the PNPO gene
symptoms
anemia
cirrhosis or fibrosis of liver
developmental delay
encephalopathy
eye movements, abnormal
failure to thrive
feeding difficulties, poor feeding
hypoglycemia
hypotonia
metabolic acidosis
microcephaly (<2 SD for age)
myoclonus
onset, neonatal
prematurity, premature delivery
seizures
vomiting
laboratory finding
L-Lactic acid normal-increasedbloodNeonatal
Glycine increasedplasma
L-Threonine increasedplasma
Glycine increasedcerebrospinal fluid
L-Threonine increasedcerebrospinal fluid
Taurine increasedcerebrospinal fluid
L-Histidine increasedcerebrospinal fluid
Arginine decreasedcerebrospinal fluid
Vanillic acid increasedurine
Homovanillic acid decreasedcerebrospinal fluid
Pyridoxal 5-prime-phosphate (PLP) decreasedcerebrospinal fluid
EEG abnormalities -
D-Glucose normal-decreasedplasmaNeonatal
Literature
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