UAE first in Middle East, 5th globally to commence ASMD treatment

UAE first in Middle East, 5th globally to commence ASMD treatment

Patients with this rare genetic disease experience abdominal enlargement causing pain, vomiting, nutritional difficulties, and negative effects on liver, blood

Published: Sun 26 Mar 2023, 3:31 PM

The UAE is the first in the Middle East to start the treatment of Acid Sphingomyelinase Deficiency (ASMD), a rare genetic disease that causes premature death.

Al Qassimi Women's & Children's Hospital which is a Emirates Health Services (EHS) facility has been providing treatment for this rare condition which affects approximately 1 in 250,000 people across the globe.

What is ASMD?

This also makes the UAE the fifth country in the world to be offering treatment for ASMD which is caused by the lack of an enzyme needed to break down a complex lipid, called sphingomyelin that accumulates in the liver, spleen, lung, and brain.

It’s said patients with ASMD experience abdominal enlargement causing pain, vomiting, nutritional difficulties, and negative effects on the liver and blood.

The patients may develop neurological symptoms, and the lifespan can be only three years in extreme conditions. Individuals with mild condition may live to adulthood but their chances of survival are reduced due to respiratory failure.

UAE case study

The medication was given to a five-year-old child at Al Qassimi Women's & Children's Hospital’s genetic clinic