Acute Recurrent Myoglobinuria, Autosomal Recessive
Autosomal recessive
Caused by changes in both copies of LPIN1, which encodes lipin-1, a muscle enzyme involved in making fats and membrane lipids. It is a recognised cause of recurrent rhabdomyolysis in childhood.
Signs and symptoms
Episodes of severe muscle pain, weakness and dark (cola-coloured) urine, starting between 2 and 7 years of age and often triggered by fever. Attacks can be life-threatening.
What a diagnosis changes
An emergency plan is important, with prompt hospital care during illness, as attacks can be life-threatening. Both parents are usually carriers, so genetic counselling and testing of siblings and carrier testing for relatives are offered.
Genes analysed
