Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
Elleder
M
M
1st Institute of Pathology, School of Medicine I, Charles University, Prague, Czech Republic.
Shin
Y S
YS
Zuntová
A
A
Vojtovic
P
P
Chalupecký
V
V
D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology*; D017809:Fatal Outcome; D006008:Glycogen Storage Disease / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D010764:Phosphorylase Kinase / Q000172:deficiency*; D011859:Radiography
D010764:Phosphorylase Kinase