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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