One fault in our gene can lead to...

dubai — A faulty gene can lead to rare Inborn Errors of Metabolism (IEM) that is more prevalent in the UAE than in other parts of the world.

Highlighting IEMs on the World Rare Diseases Day, marked on February 28, experts called upon parents to watch out for possible signs as early as possible to prevent the error from becoming lifethreatening.

Experts also urged parents to take children for the newborn screenings tests that are offered free at government hospitals. The national newborn screening test was introduced by the government in 1995 but is still in its infancy stage.

Results from a study show that one in 1,787 Emiratis are suffering from the condition. The study titled “Inborn Errors of Metabolism in the UAE: Disorders Detected by Newborn Screening” was done between (2011–2014).

It cites figures from the national newborn screening between 2011 and 2014 in which 114 patients (55 UAE citizens and 59 residents) were diagnosed.

As per the study, the programme was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens.

The earlier we recognise and diagnose the condition, the better the outcomes,” Dr Binu George, consultant paediatrician at King’s College Hospital, London Medical and Surgical Centre, Abu Dhabi

This relatively high prevalence resulted from the frequent consanguineous marriages (81.5 per cent) among affected families, the study showed.

Thus, the high prevalence of IEM in the region is amenable to newborn and premarital screening, which is expected to halt most of these diseases, concludes the study.

“The earlier we recognise and diagnose the condition, the better the outcomes,” said Dr Binu George, consultant general paediatric and neurodisability paediatrician at King’s College Hospital, London Medical and Surgical Centre, Abu Dhabi.

He said that if food is not broken down and utilised by the body as needed, it could lead to a number of conditions such as weakness, stunted growth and delayed development as a result.

“Many times, substances get accumulated in the body as well and cause enlargement of the liver and spleen leading to multiple system involvement,” he added.

Currently, between 50 to 70 IEMs have been recognised through gene analysis. “We don’t know many others yet even though technology and testing methods have improved vastly,” said Dr Binu.

Tests such as gene analysis is available in the UAE. “In some conditions, we can replace the protein and improve the condition of the patient,” he said. However, IEMs are just one of the 8,000 existing rare diseases in the world.

Dr Fatima Bastaki, consultant paediatrician and clinical geneticist, Latifa Hospital for Women and Children and the Chairman of the Organising Committee of the Rare Disease Day campaign that will continue until March 2, said: “The aim is to answer the questions of patients and to give them solutions for their problems.”