Background: Pakistan is the sixth most populous country in the World. High rates of consanguinity and inter caste marriages have resulted in a substantial burden of inherited metabolic disorders (IMDs). Despite this load, there is a dearth of both medical genetic and clinical metabolic services in Pakistan. There are inadequate numbers of appropriately trained clinicians, ill-equipped laboratories, lack of scientists and technologists equipped with skills to deal with the challenging laboratory investigations involved in IMD and a health care infra-structure unable to support a service. Aim: We present the first five year experience of the first established metabolic unit at a tertiary care hospital in Pakistan and present the case for screening of parents, parents’ siblings and antenatal diagnostic testing in subsequent pregnancies in order that families can make informed choices in preventing recurrence. Subjects and methods: This retrospective observational study comprising of patients’ chart review was conducted in the Department of Paediatrics, AKUH Karachi in Pakistan for patients who presented to the Clinical Genetics unit from January 2008 to December 2012 seeking diagnosis and treatment for the underlying IMD. Results: We evaluated 426 children, of which, 333 (78%) had consanguineous parents. Most patients, 151 (35%). evaluated for IMD were between 1 year and 5 years of age. Developmental delay, seizures, hypotonia, microcephaly, neuroregression, dystonia, ataxia and encephalopathy were the most common reasons for referrals. Only 155 (36%) patients underwent metabolic biochemical testing. Among the investigated group of patients, diagnoses were established for 85 (55%) patients equivalent to only 19.8% of the total. Conclusion: Neonatal screening for IMDs and their treatment in the current situation is an unaffordable practical option in Pakistan. Screening parents, siblings and subsequent pregnancies, however, is likely to provide a cost effective and acceptable alternative in reducing the burden and enabling early, effective detection of affected progeny before the stage when neurometabolic changes become irreversible in developing countries like Pakistan with very limited resources.
- Antenatal testing
- Cascade screening
- Inherited metabolic disorders
- Newborn screening