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Summary
PYRIDOXINE DEPENDENCY WITH SEIZURES
SEIZURES, VITAMIN B6 DEPENDENCY
266100
OMIM = Online Medalian Inheritance of Men
3006
5q23.2
  • Vitamin B6 (pyridoxine)
rare
autosomal recessive
mutations in the ALDH7A1 gene
symptoms
abnormal movement
encephalopathy
hypoglycemia
hypotonia
mental retardation
microcephaly
onset, fetus
onset, neonatal
psychomotor retardation
respiratory distress
seizures
speech development, delayed, abnormal
vomiting
laboratory finding
Glutamic acid decarboxylase
gamma-Aminobutyric acid 0.000.10increasedcerebrospinal fluid
L-Glutamic acid 11.0079.00normal/increasedcerebrospinal fluid
Pipecolic acid increasedplasma
Pipecolic acid increasedcerebrospinal fluid
alpha-Aminoadipic semialdehyde0.000.00 increasedcerebrospinal fluidno data
alpha-Aminoadipic semialdehyde increasedplasma, urine
Glucose decreasedplasmanewborn
L-Lactic acid increasedplasmanewborn
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