Kelley-Seegmiller syndrome (KSS) is a rare genetic disorder caused by a partial deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme plays a crucial role in purine metabolism, helping to break down and recycle purine nucleotides, which are essential building blocks of DNA and RNA.
Understanding the Basics
- HPRT deficiency: KSS is characterized by a partial deficiency of the HPRT enzyme, meaning the body can't efficiently break down purines.
- Purine metabolism: This leads to a buildup of uric acid in the body, which can cause various health issues.
- Severity: KSS is considered a milder form of HPRT deficiency compared to Lesch-Nyhan syndrome, which involves a complete deficiency of the enzyme.
Symptoms of Kelley-Seegmiller syndrome
KSS symptoms can vary from person to person, but common signs include:
- Uric acid stones (kidney stones): These are the most common symptom, caused by excessive uric acid buildup in the kidneys.
- Gout: Episodes of painful inflammation in joints, usually in the feet, caused by uric acid crystal deposition.
- Neurological symptoms: In some cases, individuals with KSS may experience mild neurological problems like developmental delays or behavioral issues.
Diagnosis and Treatment
- Diagnosis: KSS is usually diagnosed through blood tests that measure HPRT enzyme activity and uric acid levels.
- Treatment: Treatment for KSS focuses on managing uric acid levels and preventing complications. It typically includes:
- Medications: Medications like allopurinol help reduce uric acid production.
- Lifestyle changes: Maintaining a healthy diet and staying hydrated are crucial.
