AKUH can now detect genetic disorders in newborns

Published: March 22, 2013


The Aga Khan University Hospital (AKUH) has become the first and the only hospital in Pakistan to offer a comprehensive diagnostic testing service for inherited errors of metabolism (IEM) in newborns.

Inborn errors of metabolism are a broad group of rare genetic disorders in which the body cannot properly turn food into energy. Though the condition can be managed through medicines, it cannot be treated entirely. For instance, a person suffering from galactosaemia has to avoid milk or any milk products all his life while a person with fructose intolerance cannot consume sugarcane and beet sugar. Any delays in diagnosing babies with IEMs can lead to serious health issues – coma or brain damage – and even death.

“About one in 500 babies born worldwide suffer from these metabolic disorders,” said Dr Farooq Ghani, AKUH Outreach Laboratories director. “However, the incidence of such diseases is probably much higher in our population due to intermarriages.”  He was speaking at the continuing education session following the inauguration of IEM diagnostic services.

Dr Ghani said that the introduction of highly sophisticated chromatographic techniques has now made it possible to test a newborn for several genetic metabolic disorders simultaneously and informed the audience how prompt detection substantially improves the prognosis for many of these conditions.

Before this breakthrough, AKUH was also the only institute in Pakistan to test for phenylketonuria, another inherited IEM, and with this latest 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 detection. Babies thought to be at risk should be tested as soon as possible and once diagnosed should be referred to a metabolic physician, he said.

AKUH physician Dr Bushra Afroze, who specialises in treating inherited metabolic disorders, was of the view that an affected baby can be treated and with careful monitoring has every chance of growing normally. Unfortunately systematic approach to diagnosis and disease-management remains a challenge in Pakistan, she added.

“Huge disparities in our ethnic population, the prevalence of malnutrition and infections, 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 AKUH head of chemical pathology Dr Ayesha Habib.

Dr Habib also said that globally, the screening and diagnosis of inherited disorders has advanced considerably in recent years but in a country with no IEM centres, there is a need for groups to work in collaboration. AKUH pathology and microbiology department chair and clinical laboratories director Dr Naila Kayani pointed out how this area remained 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.

He lauded AKUH for successfully initiating IED testing on state-of-the-art equipment, adding that this is another milestone for AKUH after the launch of Pakistan’s first fully-automated biochemistry laboratory in 2012.

Published in The Express Tribune, March 22nd, 2013.

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Reader Comments (6)

  • Bravo
    Mar 22, 2013 - 3:12AM

    Hats off to the only decent hospital in Pk!


  • Good
    Mar 22, 2013 - 9:59AM

    The clinical outcomes of inborn erors of metabolism can be checked if the condition is diagnosed early. Its really good that AKUH has again taken the initiative for this.


  • hammerman
    Mar 22, 2013 - 1:58PM

    knowing AKUH and its consistently bad medical service the only way they can detect something like this is because the expecting mother was probably mistreated by them in the first place!Recommend

  • Faraz
    Mar 22, 2013 - 11:14PM

    Hammerman you are very intelligent..
    Hopefully for the benefit of society I hope they kept you under supervision somewhere..


  • anil ali
    Mar 22, 2013 - 11:16PM

    I am originally from karachi and a genetics student at Queen Mary University of London. I appreciate the step taken by AKU.However, many childer in our country will still remain undiagnosed for many other genetics disorders, because this step of diagnose is taken by just one hospital and it do not cover many coomon genetic diseases like Phenylketonuria (PKU), Sickle cell disease (SCD), and Cystic fibrosis (CF). I will appreciate if pakistani government make it a part of national healthcare system and provide genetics labs on national level so in future we put more into genetics research, which can help us to treat monogenic diseases, autoimmune diseases and the germ line genetic disorder.
    Anil, Ali


  • aleena
    Mar 23, 2013 - 2:05PM

    anil they already test for PKU this is an addition to those


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