The AKUH Paediatric Genetics and Metabolism Programme is dedicated to providing comprehensive care for children with genetic conditions and metabolic disorders. Our team of specialists works closely with families to diagnose, manage, and treat these complex conditions, ensuring children with unique needs have the best chance to live healthy and fulfilling lives. 

Conditions We Treat​

• Inherited metabolic disorders (IEMs): These are genetic conditions that affect the body's ability to process food into energy.
• Chromosomal abnormalities: These include Down syndrome and other conditions caused by extra or missing chromosomes.
• Single-gene disorders: Cystic fibrosis, sickle cell disease, and more.
• Developmental delays and birth defects.

Our Services

• Diagnosis: We offer advanced genetic testing, metabolic evaluations, and other diagnostic tools to pinpoint the specific condition affecting your child.
• Treatment: We develop personalised treatment plans that may include dietary modifications, medication, enzyme replacement therapy, and other strategies.
• Genetic counseling: Our team provides expert advice on the inheritance patterns of genetic conditions and helps families make informed decisions about future pregnancies.

Our Multidisciplinary Team

Our programme brings together a team of specialists for your child's complete care:

• Paediatric geneticists: Doctors with specialised training in diagnosing and managing genetic disorders in children.
• Metabolic physicians: Doctors with expertise in diagnosing and treating metabolic disorders.
• Dietitians: Specialists who create personalised dietary plans to meet the unique nutritional needs of your child.
• Genetic counsellors: Provide information and support to families facing genetic conditions.
• Nurses: Specially trained nurses who provide compassionate care and support to children and their families.

To learn more about our highly trained and skilled experts, search on Find a Doctor​ under the speciality of Paediatric Genetics and Metabolics​.     ​

At AKUH, we are committed to providing the highest qua​lity care for children affected by kidney disease, with a focus on compassion, expertise, and innovation.