​​​​​​Ek Sath-with patients having rare inherited metabolic disorders

A collaborative effort between Pak-IMD-Net, Pakistan Society of Chemical Pathologists and the Aga Khan University

​Inherited metabolic disorders (IMDs) are genetic defects mostly inherited from parents that can interfere with the metabolism in the body. Most IMDs are caused by mutations in genes that code for enzymes. Although most IMDs are extremely rare individually, collectively they are not rare.

Ensuring optimal outcomes of children with IMDs depends upon the early recognition of signs and symptoms followed by prompt laboratory evaluation and referral to a center familiar with the management of these disorders. Delay in diagnosis may result in acute metabolic decompensation, progressive neurological injury and growth retardation or death.​

This project therefore aims to: 

  • Provide an infra​structure for support of patients with IMDs and their families in Pakistan.

  • Assist in dealing with challenges  including diagnosis and management

  • Increase awareness on IMDs through a program of education, advocacy, research and service​​​

Deafening Silence

Deafening Silence a Mime show Highlighting the Social Acceptance and Importance of Newborn Screening of Congenital Adrenal Hyperplasia

Full View
​​​



image missing
Get Involved!
If you are a parent, guardian, caretaker, sibling or any other family member of a person with inherited metabolic defects, here’s your chance to get involved with patients from the IMD community. Register here to be part of network!
READ MORE