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Early Diagnosis Key in the Treatment of Inherited Metabolic Disorders

Early Diagnosis Key in the Treatment of Inherited Metabolic Disorders

Ahead of the upcoming Medlab Middle East, the MENA region’s largest medical laboratory event, experts are highlighting the need for more advanced clinical research to aid the early recognition and prevention of inherited metabolic disorders in the Arab world.

Inherited metabolic disorders, or inborn errors of metabolism, refer to different types of medical conditions caused by genetic defects that interfere with the body’s metabolism – the chemical reaction that takes place to convert or use energy. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency.

Dr. Hamda Abulhoul, Consultant Metabolic Medicine, Dubai Hospital & Dubai Health Authority, said: “Inherited metabolic diseases represent a major public health problem in the Arab world due to the high rate of consanguinity and a need for more public awareness. However, diagnosis has always posed challenges for physicians due to the fact that these diseases share common clinical manifestations and often present themselves in many ways without a set pattern of signs or symptoms. This means a physician must use their investigative skills in order to carry out the specific tests to lead to a diagnosis.

“Timely diagnosis is critical in the treatment of these disorders, and advances in laboratory and clinical research to date, such as Next Generation Sequencing and Tandem Mass Spectrometry (MS/MS), have increased the number of metabolic conditions that can be diagnosed through screening programmes at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders within hours of taking the sample.”

According to the UAE Genetics Diseases Association, there are more than 400 genetic diseases present in the UAE. Among these inherited metabolic disorders are Phenylketonuria (PKU), which can cause severe and irreversible damage to the brain and nervous system if untreated and Gaucher’s disease, which can lead to an enlarged spleen, liver malfunction and skeletal problems.

Inherited Metabolic Disorders

Other inherited metabolic disorders include maple syrup urine disease, a condition that appears in early infancy and is recognised by sweet-smelling urine, poor feeding or loss of appetite and weight loss; while propionic acidemia can lead to serious medical problems such as cardiac abnormalities, seizures and a coma if left undiagnosed or untreated.

In 2018, Dubai Genetic Centre opened a Genomics unit which was tasked with providing state-of-the-art genomic services by implementing the latest Next-Generation Sequencing. By using Whole Exome Sequencing (WES), physicians have the ability to detect a wide range of rare genetic diseases during the early stages of childhood.

“Rapid developments in DNA sequencing, such as Next-Generation Sequencing (NGS), Whole Exome and Whole Genome have revolutionised screening and diagnosis of inherited metabolic disorders. However, there still remains a high degree of heterogeneity and country wide, there is a lack of uniformity in the tested diseases and which newborn screening programme should be used,” Dr. Hamda Abulhoul said.

“Untargeted metabolomics may become the way of the future, for both screening and diagnosis, in an attempt to better understand the disease pathway and to improve the scope of diagnosis as well as to discover new possible therapies.”

The upcoming Medlab Middle East Congress, which is taking place from 3-6 February 2019 at Dubai World Trade Centre, will bring together regional and global experts in the field of genetics and clinical chemistry to discuss the latest advances in detection, management and indeed, the prevention of inherited metabolic disorders, among others.

Rejoy Penacerrada, Conference Director,