Our neurometabolic and neurogenetic team
Our neurometabolic and neurogenetic team look after children who have problems with both their metabolism – how their body breaks down food for energy – or their genetics and their brain function.
Neurometabolic conditions are often very complex, have many causes and can often affect more than one organ in the body. Conditions are generally quite rare.
The neurogenetic clinic at the Children’s Hospital looks after young people who mainly have complex developmental delay and offers diagnosis and support to our children and young people.
Dr Evangeline Wassmer, Paediatric Neurologist specialises in neurometabolic disorders
Dr Julian Raiman, Dr Suresh Vijay and Dr Saikat Santra are all experts in metabolic disorders
Dr Julie Vogt, Genetic Consultant
Mrs Shagufta Khan are a genetic counsellor
Louise Simmons, Senior Metabolic Nurse
We are also supported by radiology, laboratory and dietetics teams at the Children’s Hospital.
Together with the local paediatric consultant and the community nursing team, we work with families to provide an individual care plan for each of our children and young people. This can include diagnostic testing, medical management and supports for children with developmental delays.
Neurometabolic disorders cover a wide variety of conditions. These include:
- Organic acidurias: a group of inherited metabolic disorders in which an essential enzyme which breaks down amino acids (these make up proteins in our body) does not work properly. This creates a chemical imbalance and prevents normal body functioning and can cause a variety of symptoms that can vary in severity
- Amino acidopathies: a group of disorders caused in a similar manner as the organic acidurias, but instead involve the build-up of different amino acids in the body and shortages of other chemicals
- Neuronal ceroid lipofuscinoses (NCLs): this is a group of disorders caused by the harmful build-up of lipofuscins (made up of fats and proteins) in the body's tissues. Signs and symptoms vary and in when they first appear, but may include seizures, vision loss and loss of developmental skills
- Urea cycle disorders: these are caused by a faulty enzyme within the urea cycle, a metabolic process responsible for getting rid of the toxic chemical ammonia from the body. A build-up of ammonia can cause life-threatening complications, but these disorders can sometimes be mild
- Peroxisomal disorders: Peroxisomes are the part of the cell typically responsible for both breaking down chemicals. When peroxisomes are not working properly, a wide variety of types of symptoms and signs can result
- Mitochondrial diseases: these are a group of disorders caused by malfunctioning mitochondria, the part of the cell which generates energy. The decreased energy production can cause a wide variety of disorders and symptoms, which can include problems with growth, vision, hearing, breathing, muscle strength, learning and gastrointestinal and neurological problems
- Lysosomal storage disorders: Lysosomes are the part of the cell which gets rid of waste products. When there is a problem, waste products accumulate in the cell, causing symptoms that can include developmental delay, neurological problems, seizures, hearing and vision loss and enlarged liver and/or spleen
- Leukodystrophies: these are a group of disorders which affect the white matter of the brain. This can be diagnosed through an MRI scan of a patient’s brain
Many children and young people being evaluated and cared for by our team will not have one specific diagnosis. Normally, they will have a variety of general medical and developmental symptoms that our team will help to diagnose and manage.
More information on these conditions can be found on the following websites: