Newborn screening, as it is commonly known, refers to a series of blood tests performed within five days of an infant?s birth. All fifty states offer, and in most cases require, that all newborns be screened for various metabolic and genetically transmitted disorders. The total number of screenings may vary from state to state.
Earlier versions of newborn screening tested only for hypothyroidism, sickle-cell disease, PKU, and galactosemia. The new expanded screening includes tests for enzymatic and metabolic disorders. If untreated, these disorders can cause serious health problems including death. Once detected, however, they are easy to treat.
One such disorder detected by this screening is MCADD (Medium-chain Acyl-COA deyhdrogenase deficiency). MCAD is one of the enzymes that helps convert fat to energy. The body normally uses carbohydrates from our diet for energy. When those carbohydrates are used up, the body breaks down body fat for energy. The absence of MCAD can result in high levels of partially broken down fat, which is toxic to the brain and nervous system. MCADD is a hereditary disorder transmitted from parents to children through an autosomal recessive gene. When both parents carry the genetic trait for this defect, their child has a 25% chance of having this disorder. About one in 20,000 children in the United States is born with it, and, of those, 30 percent die from it. As a result, up to 50% of sudden infant deaths may be attributed to MCADD.
Once detected, MCADD is easy to treat and treated individuals go on to lead normal lives. Treatment usually consists of avoiding fasting and administering glucose orally or intravenously. Intake of medium and long-chain fatty acids should be avoided. Supplemental carnitine is recommended for some affected children.
L-carnitine is also beneficial in preventing age-related declines in metabolism and memory. Adding L-carnitine to standard medical treatments for heart failure has shown to improve exercise tolerance. Meat, poultry, fish, and dairy products are the richest sources of L-carnitine.
Copyright ? 2006 DHAN Medical Inc. All rights reserved.
Darshana Vaishnav, M. D. is a board certified medical doctor with a medical degree from Penn State University. With over 20 years of medical practice in California behind her, she set up her website DrugNatural.com to promote dietary supplements. Her site offers natural vitamins, herbal and dietary supplements with reliable purity and consistency available only from physicians, naturopaths, pharmacies or healthcare providers.
Darshana Vaishnav, M. D.
http://www.drugnatural.com