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Summary
GLYCOGEN STORAGE DISEASE TYPE XI
GSD11
612933
OMIM = Online Medalian Inheritance of Men
2364
11p15.1
rare
autosomal recessive
mutation in the LDHA gene
symptoms
lactic acidosis
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
Lactic acid mmol/lplasma
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