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Summary
Disease
GLYCOGEN STORAGE DISEASE TYPE 0b
Synonym
GSD0b
OMIM
611556
OMIM = Online Medalian Inheritance of Men
Orphanet
137625
Gene locus
19q13.33
Summary
rare
autosomal recessive
mutation in the GYS1 gene
symptoms
cardiac arrest
cardiomyopathy, hypertrophic
fainting (syncope)
mental retardation
muscle weakness
onset, childhood
pain, muscle
seizures
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
Glycogen synthase
decreased activity
muscle
Glycogen
decreased
muscle
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year
Badeloe S
et al.
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature
Exp Dermatol
15
9
735-741
2006
Deschauer M
et al.
Molecular and biochemical investigations in fumarase deficiency
Mol Genet Metab
88
2
145-152
2006