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Summary
GLYCOGEN STORAGE DISEASE TYPE X
GSD10
261670
OMIM = Online Medalian Inheritance of Men
97234
7p13
rare
autosomal recessive
mutation in the PGAM2 gene
symptoms
exercise intolerance
muscle cramps
muscle weakness
onset, adolescent
onset, childhood
pain, muscle
renal failure, acute/chronic
rhabdomyolysis
laboratory finding
Creatine kinase increasedplasma
Glycogen normal-increasedmuscle
Myoglobin normal-increasedurine
Phosphoglycerate mutase 2 decreased activitymuscle
Literature
zur Stadt Uet al.Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Hum Mol Genet146827-8342005
Ouach+®e-Chardin Met al.Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patientsPediatrics1174e743-7502006
Bzduch VBehulova D, Kozak LSacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndromeJ Inher Met Dis300269-2702007
Janka GZur Stadt UFamilial and acquired hemophagocytic lymphohistiocytosisHematology Am Soc Hematol Educ Program0082-882005