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Metabolic Disorders

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Fathiya Al Murshedi

Overview of Inborn Errors of Metabolism

In this review talk about inborn errors of metabolism (IEM), the main categories of biochemical genetic disorders will be reviewed including the underlying interruption of the biochemical pathway, clinical presentations, findings on physical examination, main biochemical derangements, diagnostic tests and when available, targeted treatment modalities.


David Kasper

Newborn Screening for Metachromatic Leukodystrophy in Northern Germany- A Prospective Study

Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal‐recessive genetic disorder caused by insufficient activity of the enzyme arylsulfatase A (ARSA) that results in intra‐lysosomal accumulation of the ARSA substrate galactosylceramide I 3 ‐sulfate (sulfatide), inevitably leading to progressive demyelination and neurodegeneration in the CNS and PNS. There are three variants of MLD commonly described in the literature based on the age at which symptoms appear: late‐infantile MLD, juvenile MLD, and adult MLD. Children affected by MLD display progressive neurologic symptoms, including ataxia, seizures, and quadriplegia, culminating in severe disability and early death. MLD diagnosis is often delayed or missed.


We have initiated a prospective newborn screening study with implementation of MLD into the current newborn screening panel (covering several different diseases) for all newborns in the German states. The total birth rate in this area is approximately 55,000 live births per year. A tiered screening approach is being applied where sulfatide levels are measured in dried blood spots, followed by genetic confirmatory testing (ARSA, SUMF1, and PSAP genes). A technical validation (for assay characteristic) has been performed utilizing measurement of 500 random NBS samples. Five known infantile/adult MLD patient samples were also measured to define final cut‐offs. Clearly elevated levels of C16:0 and C16:1:OH were found for all 5 MLD patients, C16:1:OH significantly more. Final cut offs for primary diagnostics were established in a pre‐pilot study with circa 5,000 samples, including random controls older than >28 days. Data have shown that patient age group dependent cut‐offs are critical, as the sulfatide concentrations were significantly lower in NBS group compare to the >28 days subgroups. The combination of C16:0 and C16:1‐OH sulfatide isoforms results in an improved positive predictive value compared to using only a single sulfatide. The study duration is planned for 12 months with possible extension for up to three years.

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Centre for Arab Genomic Studies
Level II, Al Nashwan Building , Al Mankhool Road, Bur Dubai

Senior consultant, Genetic and Developmental Medicine Clinic
Sultan Qaboos University Hospital, Oman

Fathiya Al Murshedi is a senior consultant clinical and biochemical geneticist at the Genetic and Developmental Medicine Clinic at Sultan Qaboos University hospital, Muscat, Oman since 2010. She is also the program director of the Medical Genetics Fellowship Program at Sultan Qaboos University Hospital. Her current research interest is in the field of biochemical genetics disease manifestations, characterization of new genetic diseases and treatment outcomes.


Background education: Dr Al Murshedi had obtained her MD from Sultan Qaboos University, Oman that was followed by residency training in Medical Genetics at the Hospital for Sick Children, University of Toronto, Canada and obtained the Fellowship of the Royal College of Physicians of Canada (FRCPC) in Medical Genetics in 2007. She completed fellowship training program in Clinical Biochemical Genetics at the at the Hospital for Sick Children, University of Toronto and obtained the fellowship of the Canadian College of Medical Geneticists (FCCMG) in 2010. Dr Al Murshedi as well completed a Master program in molecular genetics in the field of DNA repair and damage response as part of the Clinician Investigator Program (CIP) at the University of Toronto.

CEO, Archimed Life,
Austria

David Kasper (1980) graduated from the Vienna University of Technology and holds doctorates both in technical science and in medical science (2006). After his “Habilitation” (2011), he became Associate Professor and within 6 years, Head of the Main Clinical Laboratory of the Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, the Austrian Newborn Screening Program and the Laboratory for Inherited Metabolic Disorders.


David is very active to develop different methodologies to expand the screening panel, such as lysosomal storage disorders, immuno assays and next generation sequencing for genetic confirmatory testing from dried blood spots. His career long biomedical research focus has been on different topics in pediatrics such as neonatal infectiology, oncology, nephrology and hematology. Hereby, his specific focus is on the development and evaluation of novel laboratory assays in routine environment to improve and accelerate diagnostics in child.


He has given a large number of presentations all over the world. He is (co-)author of 30+ peer-reviewed publications.

Consultant, Metabolic Genetics Sheikh Khalifa Medical City
UAE

I did my undergraduate studies at UAE University, UAE and graduated in 2006 with Bachelor in Medicine and Health Science. I then completed her pediatrics residency at Sheikh Khalifa Medical City and obtained the Arab Board Specialization in Pediatrics as well as the MRCPCH. I pursued postgraduate studies at The University of Toronto, and Hospital for Sick Children, Canada. In 2014, I completed my fellowship in biochemical genetics and certified with Canadian College of Medical Genetics Board in Biochemical Genetics. Currently, I am a metabolic genetics consultant at Sheikh Khalifa Medical City, Abu Dhabi.

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