SPL disease, more accurately referred to as SGPL1-related disorders or Sphingosine-1-Phosphate Lyase Insufficiency Syndrome (SPLIS), is a rare genetic disorder caused by variants in the SGPL1 gene. This gene provides instructions for making an enzyme called sphingosine-1-phosphate lyase (SPL), which is critical for breaking down a fat-like substance called sphingosine-1-phosphate (S1P).
When the SGPL1 gene doesn't function properly, S1P accumulates in the body, leading to a range of health problems.
Key Features of SPLIS:
- Cause: Disease-causing variants in the SGPL1 gene. It's inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the variant gene for their child to be affected.
- Skin Problems: Dry, scaly, cracked, or darkened skin are common symptoms.
- Immune System Issues: Individuals with SPLIS often experience problems with their immune system, making them more susceptible to infections.
- Other Potential Problems: While the reference doesn't specify others, SPLIS can involve diverse symptoms depending on the specific variant and individual.
In summary, SPL disease (SPLIS) is a rare genetic disorder resulting from the body's inability to properly break down sphingosine-1-phosphate due to a deficiency in the sphingosine-1-phosphate lyase enzyme, caused by variants in the SGPL1 gene, leading to various symptoms including skin and immune system problems.
