Visit Metagene.de!
Summary
GLYCOGEN STORAGE DISEASE TYPE XI
GSD11
612933
OMIM = Online Medalian Inheritance of Men
2364
11p15.1
rare
autosomal recessive
symptoms
muscle cramps
muscle stiffness
muscle weakness
onset, childhood
pain, muscle
renal failure, acute/chronic
rhabdomyolysis
skin defects
skin rash, eczematous or seborrhoic
laboratory finding
Creatine kinase increasedplasma
L-Lactic acid increasedserum
Glycogen normal-increasedmuscle
Myoglobin normal-increasedurine
Lactate dehydrogenase (LDH) decreasedmuscle
Pyruvic acid increasedserum
Literature
Widhalm Ket al.Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutationsJ Inher Met Dis300239-2472007
Sevin CAubourg P, Cartier NEnzyme, cell and gene-based therapies for metachromatic leukodystrophyJ Inher Met Dis300175-1832007
Zhang Yet al.Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndromeJ Inher Met Dis3002652007
Eng CMet al.Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryJ Inher Met Dis300184-1922007