GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

Question 1

What is  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL?

Accepted Answer

rare
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261740

Question 4

Which enzymes are involved?

Accepted Answer

5-AMP-activated protein kinase subunit gamma-2

Disease	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
Synonym	PHOSPHORYLASE KINASE DEFICIENCY OF HEART
OMIM	261740 OMIM = Online Mendelian Inheritance of Men
Orphanet	439854
Protein (UniProt)	5-AMP-activated protein kinase subunit gamma-2
ExPASy	---
Gene locus	7q36.1
ICD	E74.0+G73.6
Summary	rare autosomal dominant
Laboratory findings	Creatine kinase normal/inc (plasma) D-Glucose dec (plasma) Glycogen inc (heart) Glycogen inc (muscle) Phosphorylase kinase dec (heart)
Symptoms	ascites cardiomegaly cardiomyopathy cardiomyopathy, hypertrophic dysmorphism early death hypoglycemia hypotension macroglossia, large/protuding tongue myopathy nephromegaly onset, fetus onset, neonatal pleural effusions seizures