Consultant Pediatric Metabolic Genetics - Rare Disease

Consultant Pediatric Metabolic Genetics
- Rare Disease Job Snapshot

Role:
Consultant Pediatric Metabolic Genetics
- Rare Disease

Location:

Al Ain, United Arab Emirates

Industry: Medical Practice

Function:
Physician

Experience:

Minimum 5-7 years post-board consultant experience

Job Type: Full-time Position Overview

Consultant Pediatric Metabolic Genetics
- Rare Disease in Al Ain, United Arab Emirates is a senior Medical Practice opportunity for an experienced physician specializing in inherited metabolic disorders, pediatric genetic diseases, newborn screening, rare conditions, and long-term multidisciplinary care.

Allocation Assist Middle East is hiring for a leading healthcare facility seeking a consultant who can diagnose complex metabolic and genetic conditions, interpret advanced biochemical and genomic investigations, and guide families through individualized treatment and lifelong disease management.

The role combines inpatient and outpatient consultation, metabolic emergency management, newborn screening, diagnostic interpretation, family counselling, nutritional coordination, and collaboration across multiple pediatric specialties.

Country:
United Arab Emirates

City:
Al Ain

Industry: Medical Practice

Function:
Physician

Salary:  Estimated salary range based on similar jobs in the job city; please confirm the final offer with the employer.

Gender: Any

Candidate Nationality:
Any

Job Type: Full-time

The Consultant Pediatric Metabolic Genetics specialist will manage infants, children, and adolescents with confirmed or suspected inherited metabolic and genetic disorders. Many patients will require detailed diagnostic investigation, specialized nutritional or pharmacological treatment, emergency planning, and long-term monitoring across different stages of childhood. The consultant will work closely with neonatologists, pediatric neurologists, dietitians, genetic counselors, laboratory specialists, pharmacists, and other pediatric teams.

This coordinated approach will support earlier diagnosis, prevention of metabolic deterioration, improved developmental outcomes, and informed decision-making for families affected by rare genetic disease.

• Diagnose and manage inherited metabolic diseases and genetic disorders affecting pediatric patients.
• Evaluate infants and children presenting with developmental delay, unexplained neurological symptoms, metabolic abnormalities, growth concerns, or suspected rare genetic syndromes.
• Investigate neuromuscular presentations where an inherited metabolic or genetic cause is suspected.
• Interpret biochemical investigations used in the diagnosis and monitoring of metabolic disorders.
• Review molecular and genetic testing results and incorporate findings into clinical management plans.
• Assess newborn screening results and arrange timely confirmatory investigations when abnormalities are identified.
• Develop individualized treatment strategies based on diagnosis, metabolic pathway, disease severity, developmental status, and long-term clinical needs.
• Provide specialist management for children requiring dietary modification, metabolic supplementation, medication, or other targeted therapies.
• Establish emergency treatment plans for patients at risk of metabolic decompensation during illness, fasting, surgery, or other physiological stress.
• Provide urgent consultant input for metabolic emergencies involving hypoglycemia, hyperammonemia, acidosis, or other serious biochemical disturbances.
• Conduct inpatient consultations for children requiring acute metabolic assessment or complex multidisciplinary management.
• Provide structured outpatient follow-up for patients living with chronic inherited metabolic and genetic conditions.
• Participate in newborn screening pathways and contribute specialist interpretation where metabolic disease is suspected.
• Coordinate nutritional treatment with pediatric dietitians and monitor growth, biochemical control, and treatment adherence.
• Collaborate with pediatric neurology, neonatology, laboratory medicine, genetics, and other specialties when cases involve multiple organ systems.
• Counsel families regarding diagnosis, prognosis, inheritance patterns, recurrence considerations, treatment options, and long-term care requirements.
• Support families managing rare diseases through clear communication and realistic guidance regarding ongoing monitoring and treatment.
• Maintain accurate clinical records in accordance with DOH regulations and hospital requirements.
• Participate in clinical audits, research projects, academic teaching, case discussions, and continuing medical education.
• Contribute to rare disease programs, genomic medicine initiatives, and quality improvement activities where appropriate.
• Maintain current knowledge of emerging diagnostic technologies and therapeutic advances in metabolic and genomic medicine.

The successful candidate will hold an MBBS or equivalent medical degree recognized by DOH Abu Dhabi together with Board…