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A.D.A.M. Medical Encyclopedia.
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
Side Effects
A food product that is not metabolized (broken down into energy) can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause developmental delay if not controlled. There is a wide number of inborn errors of metabolism. This article offers a general overview.
Specific information is available on the following forms of inborn errors of metabolism:
- Phenylketonuria (PKU)
Recommendations
Diet changes may control the disorder. The type and extent of the changes depends on the specific metabolic error. For example, persons with galactosemia should avoid milk and milk products, including yogurt, cheese, and ice cream. Galactose and lactose-free milk substitutes and foods should be used.
Health care providers and registered dietitians can help create a diet appropriate for the specific disease.
Review Date: 6/18/2011.
Reviewed by: Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina, Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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Newborn screening for homocystinuria
Homocystinuria is a rare condition caused by mistakes in a gene that is responsible for making an enzyme called cystathionine beta synthase (CBS). People with homocystinuria have a deficiency of this enzyme and as a result have high levels of a substance called homocysteine in their bodies. Although such individuals appear normal at birth, over a period of months and years, they develop serious problems that effect eyesight, lead to delayed mental development, cause unhealthy bones, and have a high risk of having blood clots. Treatment with a special diet and medicines can prevent the development of these complications, but must be started very early in life to be truly effective. In some parts of the world homocystinuria has been tested for in newborn babies. The aim of this review was to identify and assess the results of any controlled clinical trials where homocystinuria was tested for in newborn infants, that would allow us to draw conclusions based on the highest level of evidence. No such trials were found. We know of some uncontrolled studies which suggest that newborn screening for homocystinuria and its early treatment are effective. Future long‐term research is needed to provide strong evidence for or against screening. This research may also show whether screening is cost effective.
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- Inborn errors of metabolismInborn errors of metabolismPubMed Health
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