acute recurrent rhabdomyolysis; autosomal recessive acute recurrent myoglobinuria (ARARM)
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Genetics
- autosomal recessive
- associated with defects in LPIN1
- associated with defects in MT-CO1, MT-CO3 (mitochondrial form)
Clinical manifestations
- recurrent attacks of rhabdomyolysis associated with muscle pain & weakness, followed by excretion of myoglobin in the urine
- renal failure may occasionally occur
- onset is usually in early childhood under the age of 5 years