GLYCOGEN STORAGE DISEASE TYPE 0b

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE 0b?

Accepted Answer

rare
autosomal recessive
mutation in the GYS1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 0b; Glykogenose durch muskulären Glykogensythasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611556

Question 4

Which enzymes are involved?

Accepted Answer

Glycogen [starch] synthase, muscle

Disease	GLYCOGEN STORAGE DISEASE TYPE 0b
Synonym	GSD0b
OMIM	611556 OMIM = Online Mendelian Inheritance of Men
Orphanet	137625
Protein (UniProt)	Glycogen [starch] synthase, muscle
ExPASy	2.4.1.11
Gene locus	19q13.33
ICD	E74.0
Summary	rare autosomal recessive mutation in the GYS1 gene
Laboratory findings	Glycogen dec (muscle) Glycogen synthase dec (muscle)
Symptoms	cardiac arrest cardiomyopathy, hypertrophic exertion intolerance mental retardation muscle weakness onset, childhood pain, muscle seizures syncope