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Utah Babies Will Be Screened for 36 Metabolic Diseases

Utah Babies Will Be Screened for 36 Metabolic Diseases



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SALT LAKE CITY (AP) -- Beginning next year, all babies born in Utah will be screened for 36 metabolic diseases.

Tests are now conducted for four of the diseases, and the they identify about 21 infants a year who need treatment.

The expanded screening is expected to find another 15 to 20 cases.

The additional metabolic conditions are rare, but the consequences of not detecting them before irreversible damage occurs can include brain damage, permanent disabilities and possibly death, said Dr. Nicola Longo, professor of pediatric genetics at the University of Utah School of Medicine.

The screening uses mass spectrometry to detect metabolic disorders that affect how the body breaks down compounds such as proteins, fats and carbohydrates to produce energy or promote growth or healing.

The best known of the conditions is MCADD -- medium chain A dehydrogenase deficiency. Babies with MCADD cannot burn fat reserves and can go into a coma and die. Studies suggest that between 5 and 20 percent of sudden infant death syndrome cases may be due to MCADD.

Babies diagnosed with the disease simply need to be wakened during the night for an extra feeding.

Most metabolic disorders are simple to treat if a diagnosis is made early.

The Utah Legislature recently increased the fee the Utah Department of Health charges hospitals for newborn screening kits from $35 to $65. That money will help pay for the expanded tests.

The tests may be made from the blood taken in a single heel prick.

Parents who want the additional screening before next year may arrange it through their private health-care provider. Some hospitals are beginning to offer it as part of their basic newborn care. St. Mark's announced months ago that it would screen all babies born there with the expanded test.

Utah will be the 30th state to offer the expanded screening.

(Copyright 2005 by The Associated Press. All Rights Reserved.)

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