Neurogenetics & Neurometabolic Disorders

Neurogenetics & Neurometabolic disorders refer to a group of disorders that are distinguished by a dysfunction of an enzyme or vitamin necessity in the body for a specific chemical reaction. Neurometabolic disorders are the genetic disorders that distort how the body uses or produces energy from food. Neurometabolic disorders results in uncontrollable epilepsy, abnormal movements or loss of developmental milestones. And exhibits symptoms such as Lethargy, Poor appetite, Abdominal  pain, Vomiting, Weight loss, Jaundice, Seizures, Coma, Abnormal odour of urine, breath, sweat, or saliva etc.,  are  the common Neurogenetics & Neurometabolic Disorders are  Familial hypercholesterolemia, Gaucher disease, Hunter syndrome, Krabbe disease, Maple syrup urine diseases.

  • Neurometabolic Disorders
  • neurometabolic abnormalities
  • neurogenetics
  • Metabolic genetics
  • Paediatric Brain Tumour Consortium

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