Metabolic diseases or inherited metabolic disorders (IMD) are significant cause of mortality and morbidity among children in both the developed and developing countries. IMDs are congenital metabolic disorders resulting from the absence or abnormality of an enzyme or its cofactor, leading to either accumulation or deficiency of a specific metabolite. These are also called inborn errors of metabolism.
- Understand the Clinical utility of newborn screening testing of inherited metabolic disorders.
- Describe the test for follow-up testing of various inherited Metabolic disorders.
- Interpret newborn screening reports.
- Dr Lena Jafri "Pak-IMD Net and Newborn Screening"
- Dr George Sayhoun "Challenges faced by Clinical Laboratories in Newborn Screening of IMDs"
- Dr Hafsa Majid "Challenges and Opportunities: Experience of AKUH Newborn Screening Program)"
- Dr Sibtain Ahmed "Ask the Expert"
Who should attend?
Pathologist, Biochemical Genetics Technologist and Scientists, Chemical Pathology Residents and Trainees.
Department of Pathology and Laboratory Medicine in collaboration with Department of Continuing Professional Education and Pakistan Inherited Metabolic Disorders Network (Pak-IMD-Net) A Working Group of Pakistan Society of Chemical Pathology (PSCP)