The Aga Khan University Hospital, Karachi has become the first and only hospital in Pakistan to offer a comprehensive diagnostic testing service for inherited errors of metabolism in newborns.
Inborn errors of metabolism are a broad group of rare genetic disorders where the body cannot properly turn food into energy. The culprits are defective proteins that normally help break down parts of food; the conditions can be managed medically but cannot be treated entirely.
For instance, a person with galactosemia has to avoid milk and any milk products all his life, while a person with fructose intolerance cannot consume sugar cane and beet sugar.
Any delay in diagnosing babies with IEMs can lead to serious health issues – coma or brain damage – and even death.
“About 1 in 500 babies born worldwide suffer from these metabolic disorders. However, the incidence of such diseases is probably much higher in our population due to intermarriages,” said Dr Farooq Ghani, Director, Outreach Laboratories at AKUH.
He was speaking at the continuing education session following the inauguration of IEM diagnostic services.
“Introduction of highly sophisticated chromatographic techniques at AKUH has now made it possible to test a newborn for several genetic metabolic disorders at the same time,” added Dr Ghani, “and prompt detection substantially improves the prognosis for many of these conditions.”
Earlier, AKUH was the only institute in Pakistan to test for phenylketonuria, another inherited IEM, and with this service, it has further expanded the scope of diagnosis.
In the absence of mandatory screening of babies for hereditary diseases, paediatricians play a critical role in detecting babies who may have IEM. Babies thought to be at risk should be tested as soon as possible and once diagnosed, referred to a metabolic physician.
Dr Bushra Afroze, Metabolic Physician at AKUH who specialises in treating inherited metabolic disorders, was of the view that an affected baby can be treated and watched carefully and has every chance of growing normally.
Unfortunately, in Pakistan a systematic approach to diagnosis and management of these diseases is challenging.
“Huge disparities in our ethnic population, the prevalence of malnutrition and infections, the co-existence of very different models of public health service, unstable socio-economic and political conditions, and the difficulties in integrating the various stakeholders are hindering progress,” said Dr Aysha Habib, Head, Section of Chemical Pathology at AKUH.
Globally, the screening and diagnosis of inherited disorders has advanced considerably in recent years, however, in a country with no IEM centres, there is a need for groups to work collaboratively, complementing each other's capabilities, sharing training resources and developing joint projects.
“This area has been neglected in Pakistan due to a lack of expertise both in terms of human resource as well as the equipment needed to perform the analysis,” said Dr Naila Kayani, Chair, Department of Pathology and Microbiology, and Director, AKUH Clinical Laboratories.
Dr Kayani lauded AKUH Clinical Laboratories for successfully initiating testing for diagnosis of IEM on state-of-the-art equipment, adding that this was another milestone after the launch of Pakistan’s first fully automated biochemistry laboratory at AKUH, Karachi in 2012.