From Deseret News archives:
Babies to be tested for metabolic illness
St. Mark's first in state to screen in standard care
The metabolic conditions are rare but can have devastating — even deadly — consequences if not detected and treated early.
Current state law requires that babies be screened for four metabolic disorders and have a hearing test. The Utah Department of Health is in the process of amending its newborn screening regulations to include the expanded panel, based on recommendations from both its genetics and health advisory committees, according to spokesman Steve McDonald.
Thirty states already require expanded newborn screening, and a March of Dimes report last year criticized Utah for not requiring the tests.
The Supplemental Newborn Screening by tandem mass spectrometry detects more than 30 metabolic disorders, which impact how or if the body breaks down compounds such as proteins, fats and carbohydrates to be used as energy or to promote growth or healing. They include amino acid disorders, organic acid disorders and fatty acid oxidation disorders.
The best-known is MCADD (medium chain acyl-CoA dehydrogenase deficiency). A baby with MCADD cannot burn fat reserves for energy. "The infant runs out of food to burn for energy and can go into a coma and die," said Deb Reiner, spokeswoman for St. Mark's Hospital.
Studies indicate between 5 and 20 percent of sudden infant death syndrome cases are due to MCADD, she said. If parents know an infant has it, they simply wake their baby during the night for a feeding.
One in about 3,000 babies is born with one of the metabolic disorders, said Noriko Kusukawa, assistant vice president of ARUP Laboratories at the University of Utah. They're all treatable if diagnosed early and correctly. Left alone, they can result in mental retardation, damage to the liver, heart or brain, or even death.
Kusukawa knows of one infant with a metabolic disorder who wasn't diagnosed early enough and now needs a liver transplant.
"Effective early treatment has been proven," she said.
"The cost of treating these, when they do get sick, is so high that it is cost-effective to do this even with a 1-in-3,000" chance of finding a problem.
