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Summary
HYPEREKPLEXIA
STARTLE DISEASE KOK-DISEASE
149400
OMIM = Online Medalian Inheritance of Men
3197
5q32, 4q31.3
  • clonazepam
rare autosomal dominant
symptoms
exaggerated startle reflex
feeding difficulties, poor feeding
hernia
hypertonia, spasticity
metabolic alkalosis
motor retardation
muscle stiffness
myoclonus
onset, newborn
seizures
sudden death
laboratory finding
Literature
Wei Het al.Pharmacological induction of peroxisomes in peroxisome biogenesis disordersAnn Neurol473286-2962000
Bugaut Met al.Pharmacological induction of redundant genes for a therapy of X-ALD: phenylbutyrate and other compoundsAdv Exp Med Biol5440281-2912003
de Zegher FJaeken JEndocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescencePediatr Res370395-4011995
van Hove JLet al.Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemiaAm J Med Genet594444-4531995
Bugaut Met al.Pharmacological induction of redundant genes for a therapy of X-ALD: phenylbutyrate and other compoundsAdv Exp Med Biol5440281-2912003
Moser HWet al.Evaluation of the preventive effect of glyceryl trioleate-trierucate (Lorenzos oil) therapy in X-linked adrenoleukodystrophy: results of two concurrent trialsAdv Exp Med Biol5440369-3872003
Pande SVet al.Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Transloase assay in permeabilized fibroblastsJ Clin Invest9131247-12521993
Petersen MBet al.Early manifestations of the carbohydrate-deficient glycoprotein syndromeJ Pediatr122066-701993
van Schaftingen EJaeken JPhosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type IFEBS Lett3770318-3201995