Pediatric Metabolic Disorder- Recent Epidemics

Metabolism is carried out by chemical substances called enzymes, which are made by cells in the body. If a genetic abnormality affects the function of an enzyme or causes it to be deficient or missing altogether, various metabolic disorders can occur. Metabolic disorders are classified by the particular building block that is affected. These disorders usually result from an,

·        Inability to break down a substance that should be broken down, allowing a toxic intermediate  substance to build up

·         Inability to produce some essential substance

The recent epidemics of metabolic diseases cannot be attributed only to genetic background and changes in diet, exercise and aging. Metabolic diseases have their origins during development due to altered programming that increases susceptibility to disease later in life. Metabolism disruptors are endocrine disruptors that increase the susceptibility to metabolic diseases. Some metabolism disruptors may cause metabolic diseases pursue while others act via increasing the sensitivity or set point for disease. The metabolic disruptor hypothesis provides a focus on preventing metabolic diseases.

Allogeneic hematopoietic stem cell transplantation (HSCT) can prolong life and improve its quality in patients with inherited metabolic diseases. HSCT offers a permanent source of enzyme replacement therapy and also might mediate non-hematopoietic cell regeneration or repair. Unrelated cord blood is an exciting newer graft source for treatment of patients with these fatal disorders.

  • Type 2 diabetes(T2D)
  • Liver lipid disorders and metabolic syndrome
  • Non-alcoholic fatty liver disease (NAFLD)
  • Phenylketonuria and Lipidoses
  • Amniocentesis or Chorionic villus sampling
  • Maple syrup urine disease
  • Isovaleric acidemia
  • Prenatal screening tests
  • New-born screening tests

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