Department of

Pediatric Metabolic Genetics

Unlocking the Potential of Every Child Through Personalized Genetic Care.

Pediatric Metabolic Genetics at Sheikh Khalifa Medical City (SKMC) provides specialized care for children with inherited metabolic and genetic disorders. These conditions, often caused by inborn errors of metabolism or chromosomal abnormalities, can impact growth, development, and overall health. The dedicated team at SKMC offers precise diagnoses, individualized treatment, and genetic counseling to help children and their families navigate complex medical conditions.

Why Choose Us?

Advanced Diagnostic Services

Offering genetic testing and metabolic profiling to confirm diagnoses.

Specialized Inpatient Care

Managing acute metabolic decompensations and crises in a high-level pediatric critical care environment.

Outpatient and Day Care Services

Ensuring continuity of care with regular clinics, metabolic dietician consultations, and enzyme replacement therapies for specific metabolic disorders.

Our Expertise

The Pediatric Metabolic Genetics team at SKMC evaluates, diagnoses, and manages a broad spectrum of genetic and metabolic disorders, including but not limited to:

Inborn Errors of Metabolism (IEM):

Diagnosis and management of metabolic crises, neonatal hyperammonemia, and chronic metabolic disorders.

Chromosomal Disorders:

Assessment and management of conditions caused by chromosomal abnormalities.

Clinical Genetics:

Providing genetic counseling, diagnostic assessments, and management strategies.

Newborn Screening Abnormalities:

Early diagnosis and intervention for metabolic disorders identified through routine newborn screening.

Premarital Genetic Screening and Counseling:

Comprehensive counseling and screening services to assess potential genetic risks for prospective couples.

Mucopolysaccharidoses (MPS):

Administering regular enzyme replacement therapies.

Glycogen Storage Diseases (GSD) – Type II/Pompe Disease:

Managing ongoing enzyme replacement therapy.

Gaucher Disease:

Providing regular infusion therapies for long-term disease management.

Services

Advanced Diagnostic and Therapeutic Services

SKMC’s Pediatric Metabolic Genetics service employs cutting-edge diagnostic and therapeutic modalities to improve patient outcomes, including:

Genetic and Metabolic Profiling

Utilizing advanced testing technologies for precise diagnosis.

Enzyme Replacement Therapy (ERT)

Offering regular ERT for metabolic conditions such as MPS, Pompe, and Gaucher diseases in a controlled, monitored environment.

Multidisciplinary Metabolic Clinics

Providing coordinated care through combined metabolic and metabolic dietician clinics to ensure optimal nutrition and metabolic control.

Scope of Services

Inpatient Services

Acute Admissions: Immediate management of metabolic crises such as neonatal hyperammonemia.
Elective Admissions: Multidisciplinary evaluations, metabolic profiling, and fasting challenge tests.
Specialist Consultations: Available for pediatrics, surgery, cardiology, and critical care.
Off-Site Consultations: Extending services to Corniche Hospital, Sheikh Shakhbout Medical City, and private hospitals.

Outpatient Services

Clinic Hours: Four specialized clinics per week.
Specialty Clinics: Combined metabolic and dietician clinic, general metabolic clinic, and premarital clinic.
Insurance Access: Services available to all insurance providers.