To provide an infrastructure for support of patients and families with rare inherited metabolic defects (IMDs) in Pakistan to help in dealing challenges with diagnosis & management.
To increase awareness and support on IMDs through a program of education, advocacy, research, support and service.
The types of activities that we propose for the parents and families on the e-portal of Pak-IMD Net include:
Awareness & education on IMDs through flyers, brochures and newsletter.
Events organization on IMDs
Family Support Group Sessions
Rare Stories by Rare Patients and Families
- Invites to join in for research
Meet the Team
What are inherited metabolic defects?
Inherited metabolic defects are genetic defects mostly inherited from parents that can interfere with the metabolism in the body. Most inherited disorders of metabolism (also called inborn errors of metabolism) are caused by mutations in genes that code for enzymes; enzyme deficiency or inactivity leading to accumulation of substrate precursors or metabolites or deficiencies of the enzyme’s products. Hundreds of disorders exist, and although most inherited disorders of metabolism are extremely rare individually, collectively they are not rare.
Why it is important to diagnose them?
An optimal outcome of a child with an inherited metabolic defects 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, growth retardation or fatal outcomes.