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Summary
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
617290
OMIM = Online Medalian Inheritance of Men
8p11.23
rare
autosomal recessive
mutation in the PROSC gene
symptoms
dysmorphism
epilepsy
hypertonia, spasticity
lactic acidosis
learning disability
metabolic acidosis
microcephaly (<2 SD for age)
myoclonus
onset, infancy
onset, neonatal
psychomotor retardation
respiratory insufficiency
seizures
laboratory finding
L-Lactic acid increased (some patients)plasma
Literature
Kalliokoski RJet al.The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry diseaseJ Inher Met Dis290112-1182006
Williams SFet al.Glutaric aciduria type II and narcolepsy in pregnancyObstet Gynecol1110522-5242008