About LPIN1

What is LPIN1?

Rhabdomyolysis is a condition where muscle cells become stressed, and leak protein into the bloodstream. Rhabdomyolysis translates literally into ‘dissolution of skeletal muscle’. When this occurs you feel symptoms of muscle discomfort, including aches and pain on pressure – a little like you feel after a heavy bout of exercise. There are many conditions which can also cause rhabdomyolysis.

 

LPIN1 is a recently discovered genetic condition that can cause rhabdomyolysis on a massive scale, often without any apparent significant trigger, and is potentially life threatening.

 

Phosphatidate
Phosphatase
LPIN1

LPIN1 (Lipin 1) is
Protein Coding Gene.

Lucas’ Story

Lucas was a normal vibrant kid.  There were no abnormal health issues at all, until he was 3. First incident was when he was 3 yrs old.  He had a really bad 24 hr stomach flu and by the time he stopped vomiting, he would scream in pain if we moved him.  It lasted for about a night and he slowly progressed to get better.  We thought it was strange but he was an emotional dramatic kid so we just figured he felt terrible.

 

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