Although symptoms may vary, the presence of some of the below symptoms might indicate your child has LPIN1.
Is your child moving normally one day but out of the blue cannot walk?
Is your child experiencing back and leg pain?
Is urine a brown or dark color?
Does your child have Rhabdomyolysis?
Has your child been tested and seen elevated CK levels (Creatine Kinase)?
If your child is experiencing 2 or more of these symptoms, reach out to your health provider for further testing.
Lipin 1 is an enzyme that removes a phosphate molecule from a lipid called phosphatidate to make a new lipid called diacylglycerol.
Rhabdomyolysis is an
acute syndrome due
to extensive injury
of skeletal muscle
Rhabdomyolysis is an acute syndrome due to extensive injury of skeletal muscle
Bio of BRIAN FINCK, PHD |
LPIN1 Overview by BRIAN FINCK, PHD |
The Lipin Family: Mutations and Metabolism |
Shine for Thomas Foundation |
LPIN1 Deficiency Due to Chromosome 2 Maternal Isodisomy |
Rhabdomyolysis-Associated Mutations Article |
Information About RHABDOMYOLYSIS |
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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