GLYCOGEN STORAGE DISEASE TYPE X

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE X?

Accepted Answer

rare
autosomal recessive
mutation in the PGAM2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 10; Phosphoglycerat-Mutase-Mangel; Myopathie durch Phosphoglycerat-Mutase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261670

Question 4

Which enzymes are involved?

Accepted Answer

Phosphoglycerate mutase 2

Disease	GLYCOGEN STORAGE DISEASE TYPE X
Synonym	GSD10
OMIM	261670 OMIM = Online Mendelian Inheritance of Men
Orphanet	97234
Protein (UniProt)	Phosphoglycerate mutase 2
Gene locus	7p13
ICD	E74.0
Summary	rare autosomal recessive mutation in the PGAM2 gene
Laboratory findings	Creatine kinase inc (plasma) Glycogen normal/inc (muscle) Myoglobin normal/inc (urine) Phosphoglycerate mutase 2 dec (muscle)
Symptoms	exercise intolerance exertion intolerance muscle cramps muscle weakness onset, adolescent onset, childhood pain, muscle renal failure, acute/chronic rhabdomyolysis