Pediatric Metabolic Genetics

Comprehensive Care for Children with Rare Metabolic Disorders

Pediatric Metabolic Genetics

The Pediatric Metabolic Genetics Department at SEHA Tawam Hospital is dedicated to the diagnosis, treatment, and long-term management of inherited metabolic disorders in infants, children, and adolescents. These rare and complex conditions can affect growth, development, and overall health, often requiring lifelong care. With one of the most advanced genetics and pediatric subspecialty teams in the region, SEHA Tawam Hospital provides families with the expertise, technology, and support they need to manage these conditions effectively.

Our goal is to deliver personalized, family-centered care, combining state-of-the-art diagnostics with compassionate guidance. By integrating genetic counseling, nutritional therapy, and advanced therapies, we empower families to make informed decisions while improving long-term outcomes for their children.

Why Choose SEHA Tawam Hospital for Pediatric Metabolic Genetics?

Specialized Expertise

Pediatric geneticists and metabolic specialists trained in the diagnosis and management of rare inherited conditions.

Advanced Diagnostics

Comprehensive genetic testing, metabolic screening, and molecular diagnostics available in-house.

Multidisciplinary Approach

Close collaboration between pediatrics, endocrinology, neurology, nephrology, nutrition, and genetics.

Family-Centered Care

Supportive counseling, education, and resources to help families understand and manage lifelong conditions.

State Referral Center

Recognized across the UAE as a leading center for rare pediatric disorders.

Nutrition & Diet Therapy

Specialized dieticians trained in metabolic diseases to provide tailored nutrition plans.

Research and Innovation

Participation in international registries and research trials to advance care for metabolic genetics.

What We Treat

Amino Acid Disorders

  • Phenylketonuria (PKU)
  • Maple Syrup Urine Disease
  • Homocystinuria

Carbohydrate and Energy Metabolism Disorders

  • Glycogen storage diseases
  • Galactosemia
  • Disorders of mitochondrial function

Fatty Acid Oxidation Disorders

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Long-chain fatty acid oxidation defects

Organic Acid Disorders

  • Methylmalonic acidemia
  • Propionic acidemia

Urea Cycle Disorders

  • Hyperammonemia syndromes caused by enzyme deficiencies

Lysosomal Storage Disorders

  • Gaucher disease, Fabry disease, Pompe disease, and others

Congenital Metabolic Syndromes

  • Disorders affecting growth, development, and multiple organ systems

Each child receives a personalized care plan integrating medication, dietary modification, enzyme replacement therapy (when available), and regular monitoring.

Innovations and New Updates

Expanded Newborn Screening Programs

Early detection of metabolic disorders to begin treatment before complications arise.

Advanced Genetic Sequencing

Whole exome and genome sequencing for faster and more precise diagnosis.

Specialized Nutrition Clinics

Diet therapies tailored to metabolic requirements, with ongoing adjustments for growth and development.

Metabolic Crisis Management

Dedicated protocols for emergency situations such as metabolic decompensation.

Clinical Trials & Research Participation

Tawam Hospital’s active role in global studies to expand access to emerging therapies.

Family Support Programs

Workshops and educational sessions for parents, caregivers, and schools to manage conditions effectively.

Meet Our Experts

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The Pediatric Metabolic Genetics team at SEHA Tawam Hospital includes pediatric geneticists, metabolic physicians, dieticians, genetic counselors, and specialized nurses. Together, they provide a comprehensive model of care designed not only to address medical needs but also to offer emotional and educational support to families.

Through their expertise and commitment, they strive to enhance quality of life, reduce complications, and provide hope for children living with inherited metabolic disorders.

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