On Janaury 24, St. Mark’s Hospital began conducting a Supplemental Newborn Screening by tandem mass spectrometry that detects over 30 metabolic disorders. St. Mark’s is the first hospital in Utah to establish this screening as a standard of care for all newborns.

Metabolic disorders affect the body’s ability to produce or break down compounds such as proteins, fats, or carbohydrates into smaller substances the body needs for energy, growth and repair. One in 3,800 babies has some type of metabolic disorder.

Most metabolic disorders are autosomal recessive, which means that each parent must pass an affected gene to their baby for the disorder to appear.  That is why in many cases there is no family history, and a child is the first in the family to have the disorder. If both parents are “carriers,” there is a one-in-four, or 25%, chance that the disorder will occur in the baby. There are three primary categories of metabolic disorders: Amino Acid Disorders, Organic Acid Disorders and Fatty Acid Oxidation Disorders.

Symptoms of metabolic disease varies by specific disorder but commonly include drowsiness, poor feeding, vomiting, low blood sugar, and slow development. Without early intervention, many of these disorders can cause mental retardation, heart, brain, or liver damage, or death.

One such disorder in the Fatty Acid Oxidation category is Medium chain acyl-CoA dehydrogenase deficiency (MCADD) where the infant is not able to use fat for energy. This disorder could result in unconsciousness or death in infants during sleep. One study accounted for 5% of SIDS cases being due to MCADD. As many as 1 in 12,000 infants are found to have this disorder. Once identified, a parent knows of the disorder and how to counter the negative effects.  In the case of MCADD, parents will wake their infants during the night in order to feed them and provide the energy necessary to sustain life.

The metabolic screenings are most effective when performed within 48 hours of birth.  It is done with a heel prick and, in fact, is done with the same prick as the PKU test – baby is not poked twice.