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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
myoclonus
onset, infant
onset, newborn
psychomotor retardation
respiratory insufficiency
seizures
laboratory finding
Lactate increased (some patients)plasma
Literature
Ulick Set al.A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisolJ Clin Endocrinol Metab495757-7641979
Williams SFet al.Glutaric aciduria type II and narcolepsy in pregnancyObstet Gynecol1110522-5242008