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acute recurrent rhabdomyolysis; autosomal recessive acute recurrent myoglobinuria (ARARM)
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
Laboratory:
- myoglobin in urine: myoglobinuria
Related
myoglobinuria
General
genetic disease of muscle (inherited myopathy)
rhabdomyolysis
Database Correlations
OMIM correlations
References
OMIM :accession 268200