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Summary
AASA DEHYDROGENASE DEFICIENCY PYRIDOXINE DEPENDENCY WITH SEIZURES (PDE)
SEIZURES, VITAMIN B6 DEPENDENCY
266100
OMIM = Online Medalian Inheritance of Men
3006
5q23.2
  • Vitamin B6 (pyridoxine)
rare (1:20000 - 1:783000)
autosomal recessive
mutations in the ALDH7A1 gene
symptoms
abnormal movement
developmental delay
encephalopathy
epilepsy
hydrocephalus
hypoglycemia
hypotonia
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
respiratory distress
seizures
speech development, delayed, abnormal
status epilepticus
vomiting
laboratory finding
Glutamic acid decarboxylase
4-Aminobutyric acid 0.000.10-Ámol/lcerebrospinal fluid
Glutamic acid 11.0079.00+€mol/lcerebrospinal fluid
Pipecolic acid +€mol/lplasma
Pipecolic acid +€mol/lcerebrospinal fluid
alpha-Aminoadipic semialdehyde1.0015.00 +€mol/lcerebrospinal fluid
alpha-Aminoadipic semialdehyde2.0040.00 mmol/mol creatinineurine
D-Glucose mmol/lplasma
L-Lactic acid mmol/lplasma
Pipecolic acid mmol/mol Creaurine
EEG abnormalities -
alpha-Aminoadipic semialdehyde25.00 +€mol/lurine
6-Oxo-pipecolate mmol/mol creatinineurine
6-Oxo-pipecolate +€mol/lplasma
6-Oxo-pipecolate +€mol/lcerebrospinal fluid
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