Metabolic Genetics

Advanced Diagnosis and Care for Inherited Metabolic Disorders

Metabolic Genetics

At SEHA Tawam Hospital, the Metabolic Genetics Department specializes in the evaluation, diagnosis, and management of inherited metabolic disorders, offering highly-specialized care for patients of all ages. These conditions, though rare, often require lifelong monitoring and complex treatment approaches. With a strong commitment to precision medicine and multidisciplinary collaboration, Tawam provides comprehensive services designed to support patients and families navigating the challenges of metabolic diseases.

Our mission is to improve quality of life, reduce complications, and provide long-term support through advanced diagnostics, personalized therapies, and family-centered care.

Why Choose SEHA Tawam Hospital for Metabolic Genetics?

Specialized Expertise

A team of physicians, geneticists, and dietitians with deep knowledge of inborn errors of metabolism.

State-of-the-Art Diagnostics

Advanced biochemical assays, enzyme activity studies, and genetic testing for accurate and timely diagnosis.

Newborn Screening Integration

Collaboration with UAE’s national newborn screening program for early detection and intervention.

Personalized Care Plans

Treatment strategies combining diet modification, enzyme replacement, vitamin or cofactor therapy, and monitoring.

Multidisciplinary Approach

Close collaboration with neurology, cardiology, nephrology, endocrinology, and nutrition for comprehensive care.

Family Counseling and Support

Genetic counseling to help families understand inheritance patterns, recurrence risks, and treatment options.

Dedicated Pediatric and Adult Care

Services designed to transition patients seamlessly from childhood to adulthood with continuity of care.

What We Treat

Inborn Errors of Metabolism

  • Disorders of amino acid metabolism (e.g., phenylketonuria, maple syrup urine disease)
  • Organic acidemias (e.g., methylmalonic acidemia, propionic acidemia)
  • Urea cycle disorders causing hyperammonemia

Energy Metabolism Disorders

  • Fatty acid oxidation defects (e.g., MCAD deficiency, VLCAD deficiency)
  • Mitochondrial disorders affecting cellular energy production

Carbohydrate Metabolism Disorders

  • Glycogen storage diseases
  • Galactosemia and hereditary fructose intolerance

Lysosomal Storage Disorders

  • Gaucher disease, Fabry disease, Pompe disease, and other enzyme deficiencies

Vitamin & Cofactor-Related Disorders

  • Biotinidase deficiency
  • Disorders responsive to vitamins and cofactors (e.g., B12 metabolism disorders)

Innovations and New Updates

Expanded Genetic Testing

Whole-exome sequencing and gene panels to identify rare metabolic syndromes.

Precision Therapies

Enzyme replacement therapy (ERT) and substrate reduction therapy now available for select lysosomal storage disorders.

Nutritional Genomics

Integration of diet-based therapies with genetic insights for optimal metabolic control.

Telemedicine Support

Virtual consultations to provide continuity of care for families living outside Al Ain.

Transition Programs

Structured care pathways for adolescents moving from pediatric to adult metabolic genetics services.

Family Education Workshops

Programs to empower parents and caregivers with skills for dietary management and emergency care planning.

Our Experts

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The Metabolic Genetics team at SEHA Tawam Hospital is composed of highly trained specialists in clinical genetics, biochemical genetics, and nutrition science. They work hand-in-hand with laboratory experts and allied health professionals to deliver accurate diagnoses and innovative treatment plans.

The team’s philosophy is rooted in family-centered, lifelong care, ensuring that patients with inherited metabolic conditions receive not only treatment but also emotional and educational support. By advancing research, promoting awareness, and collaborating internationally, Tawam’s experts continue to raise the standard of metabolic genetics care in the UAE.

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