The 4-year-old girl ached from swelling in her liver and spleen Riyadh: Saudi Health stated that a medical team at the Qatif Central Hospital (eastern Saudi Arabia), managed to provide a treatment with an alternative enzyme for a 4-year-old girl, who suffered from the rare Niemann-Pick genetic disease.
The disease affects the body's ability to break fat, causing cell damage and decay. It is expected that a defective SMPD1 gene is to blame.
The disease was detected 7 months ago, symptoms began with a swelled spleen and liver, as well as lung and growth problems.
Enzyme therapy was provided to the patient and the symptoms gradually declined. This is the 2nd case in Saudi Arabia that undergoes this breakthrough therapy among Niemann-Pick patients.
| 
RSS Feed 
