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Summary
MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY HML - CHECK
255125
OMIM = Online Medalian Inheritance of Men
43115
rare
autosopmal recessive
mutation in the ISCU gene
symptoms
cardiac involvement, cardiac defects
defect of walking, running, rising or climbing
exercise intolerance
lactic acidosis
muscle cramps
myopathy
onset, childhood
onset, infancy
pain, muscle
rhabdomyolysis
laboratory finding
Lactic acid increasedserum
Creatine kinase normal-increasedserum
Myoglobin normal-increasedurine
Literature
Sutton VRTay-Sachs disease screening and counseling families at risk for metabolic diseaseObstet Gynecol Clin North Am292287-2962002
Chiricozzi E,et al.Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on +¦-hexosaminidase activity in Sandhoff fibroblastsMol Neurobiol501159-1672014
Hendriksz CJ,et al.Juvenile Sandhoff disease--nine new cases and a review of the literatureJ Inherit Metab Dis272241-2492004