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Summary
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
PHOSPHORYLASE KINASE DEFICIENCY OF HEART
261740
OMIM = Online Medalian Inheritance of Men
439854
7q36.1
rare
autosomal dominant
symptoms
ascites
cardiomegaly
cardiomyopathy
cardiomyopathy, hypertrophic
dysmorphism
early death
hypoglycemia
hypotension
macroglossia, large/protuding tongue
myopathy
pleural effusions
renal enlargement (large kidneys)
seizures
laboratory finding
Creatine kinase normal-increasedplasma
D-Glucose decreasedblood
Glycogen increasedheart, muscle
Phosphorylase kinase decreased activityheart
Literature
Mandey SHet al.Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiencyHum Mutat278796-8022006