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Summary
PYRIDOXINE DEPENDENCY WITH SEIZURES (PDE)
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
developmental delay
encephalopathy
hypoglycemia
hypotonia
mental retardation
microcephaly (<2 SD for age)
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
D-Glucose decreasedplasmanewborn
L-Lactic acid increasedplasmanewborn
Literature
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