Newborn screening for genetic metabolic diseases helps a portion of children stay healthy as they grow, but decompensation episodes still occur in the first weeks after birth before test results come back, a new study by German researchers in Pediatrics found.
The American Academy of Pediatrics recommends all newborns undergo screening for metabolic conditions like phenylketonuria (PKU), maple syrup urine disease (MSUD), and mitochondrial trifunctional protein deficiency (MTPD) within 48 hours after birth.
The study followed 257 children with an identified metabolic condition from screening in the first days following birth to a median age of 13.7 years. A little over 70% never exhibited symptoms of their disease identified through screening, but the remainder did develop permanent symptoms. Approximately 81.4% of the children had normal IQs, and over 90% attended regular schools. Other conditions included in the analysis were long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and isovaleric aciduria (IVA).
Researchers also analyzed data of children with disorders other than PKU (n=154) and found nearly 45% experienced a metabolic decompensation, defined by a hospitalization stay because of a related symptom such as hypoglycemia or acidosis, within the first 28 days of life. Nearly half of these episodes occurred even before screening results were available.
“This study illustrates that while newborn screening can identify neonates at risk of metabolic disease, there are still limitations,” said Amy Kritzer, MD, clinical chief of the Division of Genetics and Genomics and director of the Metabolism Clinical Program at Boston Children’s Hospital in Boston. Kritzer was no