Child Neurology Society, Philippines, Inc.
NEUROGENETICS AND NEUROMETABOLIC DISEASES
Neurogenetics: Understanding the Role of Genes in Your Child’s Health
By: Anna Castro, MD
Last edited: Jan 31, 2025
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How Genes Impact the Brain
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Neurogenetics is a field that studies how changes in genes can affect the brain and nervous system. Some neurological conditions in children, like epilepsy, developmental delays, or muscle disorders, may happen because of these genetic changes.
By understanding the role of genes, doctors can provide clearer answers about why a condition occurs and how it might be managed. By identifying these genetic conditions, clinicians and researchers can provide more accurate diagnoses, targeted therapies, and better support for affected children and their families
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For parents, this means gaining insight into your child’s unique needs, exploring possible treatments, and even learning about steps to support your child’s development. Neurogenetics is helping families uncover the “why” behind complex neurological conditions, offering both answers and hope​.​
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Examples of Neurogenetic Disorders
Neurogenetic disorders are conditions caused by changes in genes that affect the development and function of the nervous system. Some common examples include:
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1. Epileptic Encephalopathies
These are severe epilepsy syndromes, often caused by genetic mutations that begin in infancy or childhood. Examples include Dravet syndrome and Lennox-Gastaut syndrome, which can lead to developmental delays and cognitive challenges.
2. Muscular Dystrophies
Genetic conditions like Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) affect the muscles and can lead to progressive weakness, with potential involvement of the nervous system in later stages.
3. Neurodegenerative Disorders
Pediatric neurodegenerative conditions, such as Tay-Sachs disease and metachromatic leukodystrophy, result from genetic defects that lead to the accumulation of harmful substances in the brain and nervous system, causing progressive neurological decline.
4. Hereditary Ataxias
Disorders like Friedreich’s ataxia are characterized by difficulties with coordination and balance due to genetic mutations affecting the cerebellum and spinal cord.
5. Rett Syndrome
A rare condition affecting primarily females, Rett syndrome is caused by mutations in the MECP2 gene and leads to a loss of motor and communication skills after a period of normal development.
6. Charcot-Marie-Tooth Disease (CMT)
This group of inherited peripheral neuropathies results in progressive nerve damage, causing muscle weakness, sensory loss, and foot deformities.
The journey of genetic testing
Not all genetic tests are made equal because different genetic tests will look into specific parts of our genetic material. Depending on the condition suspected, Your doctor may request for tests that look into the chromosome, the mitochondria, a set of genes, or specific gene, or a combination of these.
Mapping the genome is a continuing study because genes associated with certain illnesses are still being identified. Because of this, the decision on what test to do rests on what is currently known. A detailed history of the illness along with an extensive family medical history of similar and associated illnesses will help provide information as to the best test to be done.
Genetic testing will not only potentially identify the condition, but can also inform your doctor of possible specific treatment options. This can be in the form of pharmaco-genetics, pharmaco-genomics, gene therapy or enzyme replacement therapy.
Your child neurologist works hand-in-hand with clinical geneticists, genetic counselors as well as other specialists in the field to provide you information regarding which test is best suited for you and your child.​
Neuro-metabolic Diseases:
Understanding Brain Chemistry and Metabolism
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Neurometabolic diseases are genetic conditions caused by problems with how the body processes nutrients and energy, which can affect the brain and nervous system.
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These disorders often happen when the body can’t break down certain substances or make essential compounds, leading to symptoms like developmental delays, seizures, or movement difficulties.
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These disorders illustrate the critical connection between metabolism and brain health.
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Advances in genetic testing and biochemical screening are improving early detection, enabling better outcomes through timely interventions.
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Learning about neurometabolic diseases can help explain why your child is experiencing these challenges and provide guidance on how to manage the condition.
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With early diagnosis and treatment, such as special diets or medications, many children can see improvements in their health and quality of life.
Examples of Neurometabolic Diseases
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1. Phenylketonuria (PKU)
Caused by a deficiency of the enzyme phenylalanine hydroxylase, PKU leads to a buildup of phenylalanine in the blood, which can damage the brain if untreated. Early dietary management can prevent severe neurological complications.
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2. Maple Syrup Urine Disease (MSUD)
This disorder results from a defect in breaking down certain amino acids, leading to toxic accumulation. If untreated, it can cause developmental delays, lethargy, and seizures.
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3. Lysosomal Storage Diseases
Tay-Sachs Disease: Caused by a deficiency in the enzyme hexosaminidase A, leading to the accumulation of harmful substances in brain cells.
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Gaucher Disease: A metabolic disorder where fatty substances build up in organs and the nervous system, potentially causing neurological impairment in severe forms.
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4. Mitochondrial Diseases
These disorders, such as Leigh syndrome, affect the energy-producing mitochondria in cells, leading to symptoms like developmental regression, muscle weakness, and movement disorders.
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5. Urea Cycle Disorders
A defect in the body’s ability to remove ammonia from the bloodstream can lead to hyperammonemia, causing confusion, lethargy, or even coma.
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6. Glutaric Acidemia Type I (GA1)
This condition results in the accumulation of certain organic acids that can damage the brain, particularly during periods of illness or stress.
Neurogenetics and neurometabolic diseases are two specialized fields within neurology that focus on understanding how genetic and metabolic factors influence the brain and nervous system. While some conditions may be detected through newborn screening (NBS), a large number of conditions require other kinds of genetic and metabolic tests to identify.
Neurogenetics examines how genetic mutations contribute to conditions such as epilepsy, muscular dystrophies, and hereditary ataxias, paving the way for personalized treatments and early interventions.
Neurometabolic diseases, on the other hand, explore disorders caused by enzyme deficiencies or metabolic defects that disrupt brain chemistry, leading to conditions like phenylketonuria (PKU), Tay-Sachs disease, and mitochondrial disorders.
Together, these fields are advancing our ability to diagnose and treat complex neurological conditions, offering hope for improved outcomes in children affected by these rare and often debilitating disorders.