MYOADENYLATE DEAMINASE DEFICIENCY WITH SEVERE RHABDOMYOLYSIS

A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increase d serum creatine kinase level of 19000 units/l). The acute rhabdomyoly sis and the preceding episodes of muscle pain and weakness had been in duced by exercise. There was no increase in plasma ammonia level durin g ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically . The girl was found to be homozygous for the C 34-T mutation of the A MPD1 gene causing primary myoadenylate deaminase deficiency in skeleta l muscle. Both parents and her brother were heterozygous for that muta tion. Myoadenylate deaminase deficiency has to be considered as a caus e of severe rhabdomyolysis.