Inherited neurometabolic disorders are commonly seen and diagnosed by doctors in the clinic, and many are potentially treatable. These inborn errors of metabolism are distinctly heterogeneous, both clinically and genetically. To date more than 600 genes have been identified to cause disease, including the SLC19A3, POLG1, and the BTD genes. Care for pediatric patients with neurometabolic disorders is therefore a rapidly expanding subspecialty in neurology. Early detection and early intervention of these disorders is invaluable in achieving normal or near normal neurodevelopmental milestones for many patients.
In this Research Topic on pediatric neurometabolic diseases, we aim to briefly discuss some novel genetic and biochemical laboratory techniques relating to these disorders. We would also like to cover the changing insights regarding the molecular causes of these diseases, and illustrate examples of common neurometabolic disorders that clinicians may come across. We aim to cover the diagnostic workup of patients in who these disorders are suspected, as next generation sequencing and screening have expanded our understanding of the pathogenic mechanisms. The discovery of lysine pathway metabolism in the mechanism of pyridoxine dependent epilepsy, for example, has completely changed the diagnosis, management and outcome of this disease. We would also like to touch on the future challenges in the treatment of these patients.
Therefore, this Research Topic aims to provide an overview and update on pediatric neurometabolic diseases. We welcome the submission of Reviews and Original Articles addressing, but not limited to, the following themes:
- Cerebral creatine deficiency syndromes;
- Metabolic epilepsy;
- Metabolic movement disorders;
- Neuronal ceroid lipofuscinosis;
- Neurotransmitter disorders;
- Metabolic/genetic diseases with predominant spinal cord involvement;
- Congenital glycosylation disorders;
- Neuroimaging of neurometabolic diseases;
- Mitochondrial diseases;
- Metabolic leukodystrophy.
Inherited neurometabolic disorders are commonly seen and diagnosed by doctors in the clinic, and many are potentially treatable. These inborn errors of metabolism are distinctly heterogeneous, both clinically and genetically. To date more than 600 genes have been identified to cause disease, including the SLC19A3, POLG1, and the BTD genes. Care for pediatric patients with neurometabolic disorders is therefore a rapidly expanding subspecialty in neurology. Early detection and early intervention of these disorders is invaluable in achieving normal or near normal neurodevelopmental milestones for many patients.
In this Research Topic on pediatric neurometabolic diseases, we aim to briefly discuss some novel genetic and biochemical laboratory techniques relating to these disorders. We would also like to cover the changing insights regarding the molecular causes of these diseases, and illustrate examples of common neurometabolic disorders that clinicians may come across. We aim to cover the diagnostic workup of patients in who these disorders are suspected, as next generation sequencing and screening have expanded our understanding of the pathogenic mechanisms. The discovery of lysine pathway metabolism in the mechanism of pyridoxine dependent epilepsy, for example, has completely changed the diagnosis, management and outcome of this disease. We would also like to touch on the future challenges in the treatment of these patients.
Therefore, this Research Topic aims to provide an overview and update on pediatric neurometabolic diseases. We welcome the submission of Reviews and Original Articles addressing, but not limited to, the following themes:
- Cerebral creatine deficiency syndromes;
- Metabolic epilepsy;
- Metabolic movement disorders;
- Neuronal ceroid lipofuscinosis;
- Neurotransmitter disorders;
- Metabolic/genetic diseases with predominant spinal cord involvement;
- Congenital glycosylation disorders;
- Neuroimaging of neurometabolic diseases;
- Mitochondrial diseases;
- Metabolic leukodystrophy.
