SPLIS (Sphingosine Phosphate Lyase Insufficiency Syndrome)
Rare SGPL1-related disorder affecting kidneys, adrenal glands, and the nervous system.
What it is
A rare inherited disorder caused by SGPL1 mutations, often linked to steroid-resistant nephrotic syndrome, adrenal insufficiency, and neurologic complications.
Symptoms to watch
Kidney disease, seizures, developmental delays, adrenal issues, immune and gastrointestinal concerns, and skin abnormalities.
How diagnosis is confirmed
Diagnosis is confirmed when symptoms are present and genetic testing identifies two faulty SGPL1 gene copies.
Treatment approach
No cure yet. Care focuses on early diagnosis, symptom management, hormone therapy, dialysis, immune monitoring, and nutritional support. Research into gene therapy and vitamin B6 as a cofactor is ongoing.
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