Neurometabolic Disorders

Neurometabolic disorders are a group of inherited conditions in which abnormal chemical processes in the body damage the nervous system. These disorders often present in infancy or early childhood and can affect brain development, cognition, movement, and overall neurological function. Early identification is critical, as some conditions are treatable if caught in time.

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Common Neurometabolic Disorders

• Phenylketonuria (PKU) – Inability to metabolize phenylalanine
• Maple Syrup Urine Disease (MSUD) – Defect in amino acid metabolism
• Organic Acidemias – Disorders of organic acid metabolism
• Urea Cycle Disorders – Impaired ammonia detoxification
• Mitochondrial Disorders – Defects in cellular energy production
• Lysosomal Storage Disorders – Accumulation of toxic substances in cells
• Leukodystrophies – Progressive white matter diseases
• Glucose Transporter Deficiency (GLUT1) – Impaired glucose transport to the brain

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Signs & Symptoms

Symptoms vary by condition but may include:

• Developmental regression or loss of milestones
• Seizures unresponsive to standard treatment
• Intellectual disability or cognitive decline
• Movement abnormalities (ataxia, dystonia, spasticity)
• Recurrent episodes of metabolic crisis (vomiting, lethargy, coma)
• Abnormal eye movements or vision problems
• Unusual body odor or urine smell

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Causes

• Inherited genetic mutations (autosomal recessive, X-linked)
• Enzyme deficiencies disrupting metabolic pathways
• Mitochondrial DNA mutations
• De novo genetic changes

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Diagnosis

• Newborn screening (tandem mass spectrometry)
• Plasma amino acids and urine organic acids
• Cerebrospinal fluid (CSF) analysis
• Brain MRI with spectroscopy
• Enzyme assays and genetic testing
• Mitochondrial DNA analysis

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Treatment & Management

• Dietary Therapy – Specialized diets to restrict harmful metabolites (e.g., PKU, MSUD)
• Enzyme Replacement Therapy – For lysosomal storage disorders
• Cofactor Supplementation – Vitamins and cofactors for responsive conditions
• Ketogenic Diet – For GLUT1 deficiency and mitochondrial disorders
• Seizure Management – Targeted anti-epileptic therapy
• Rehabilitation Therapies – Physical, occupational, and speech therapy
• Genetic Counseling – For families and family planning

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Our Approach

We offer specialized evaluation and management for children with neurometabolic disorders. Our team combines expertise in pediatric neurology and metabolic medicine to provide accurate diagnosis, timely treatment, and ongoing support for affected children and their families.

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Book a Consultation

Early diagnosis can prevent irreversible neurological damage. Contact us today to schedule a comprehensive metabolic and neurological evaluation.