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Neurometabolic And Neurogenetic Conditions


Neurometabolic disorders are a rare type of neurogenetic disorder that interferes with how the body produces energy from food. In neurometabolic diseases, the rate of metabolism is either too low or too high than the required rate of regulation.

What causes Neurometabolic disorders?

Neurometabolic disorders can be caused by abnormal changes in the genetic code, often referred to as “gene mutations.” They are either inherited from unaffected parents or result from sudden genetic mutations in the child’s genes.

Signs and symptoms of Neurometabolic disorders

Children with a neurometabolic disorder exhibit the following symptoms -

  1. Uncontrolled epilepsy seizures

  2. Slow development

  3. Loss of developmental skills

  4. Muscle twitching or abnormal, uncontrollable movements.

  5. Muscle weakness

  6. Vision-related problems such as cataracts, retinal abnormalities, or partial blindness

  7. Hearing problems

  8. Bigger head (macrocephaly or microcephaly)

Diagnosis of Neurometabolic disorders

Neurometabolic diseases can be deduced only by a neurologist trained in recognising these conditions. Our experts at Neuropedia do a comprehensive medical examination of your child, usually with the following tests:

  1. Blood and urine tests

  2. Genetic tests

  3. Brain MRI or brain imaging tests

  4. Testing of cerebrospinal fluid by lumbar puncture

  5. Biopsies of muscle, liver, and skin.

Our specialists may also demand your medical history to study and identify the genetic passing of the disease.


The diagnosis plays a vital role in planning the course of treatment. These conditions require rigorous investigation with a systematic and evidence-based diagnostic approach.
Since each case is different, our specialists treat individual cases uniquely. If the direct cause is undiagnosable (idiopathic), we aim to manage symptoms for holistic neurometabolic disorder treatment. This helps reduce the frequency and intensity of issues caused due to neurometabolic disorders.
Also, we collaborate with accredited and reputed healthcare facilities and professionals across the country to ensure accurate diagnosis and procedures. If you have a child suffering from a neurometabolic disorder or its symptoms, visit Neuropedia Centre to know more.