Pediatrics Metabolic Disorders

The metabolic disorder occurs when abnormal chemical reactions in the human body disrupt metabolism. When this happens, the patient may have too much of some substances, or too little of others, which are needed to stay healthy. Metabolic disorders or inborn errors of metabolism (IEM) result from a block (partial or complete) to an essential pathway in the body's metabolism. Childhood obesity has contributed to an increased incidence of type 2 diabetes mellitus and metabolic syndrome among children.  Disorders in metabolism can be inherited, in which case they are also known as inborn errors of metabolism. Inherited metabolic disorders may affect about 1 in 1,000 to 2,500 new born. In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that doesn't work. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced.

 

  • Hunter syndrome
  • Gaucher disease
  • Galactosemia
  • Tay-Sachs disease
  • Adrenoleukodystrophy
  • Maple syrup urine disease
  • Cardiomyopathy

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