title: Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
abstract: Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxic metabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for newborn screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC during expanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic newborn affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 μmol/L, n.v. < 2) and normal tyrosine concentration (74 μmol/L; n.v. < 250). We also performed molecular analysis of FAH gene in both patients after diagnosis at newborn screening. They had consanguineous parents and were both homozygous for two known disease-causing mutations of the FAH gene. The outcome of patients detected in the MS/MS screening is significantly favorable. We also report our results of newborn screening for tyrosinemia type I before and after inclusion of SUAC as a primary marker for this disease.
authors: Mass Spectrometry Laboratory, Clinic of Pediatric Neurology, A. Meyer Children's Hospital, Florence, Italy, g.lamarca@meyer.it.
authors: Giancarlo
authors: G
authors: la Marca
authors: Sabrina
authors: S
authors: Malvagia
authors: Elisabetta
authors: E
authors: Pasquini
authors: Catia
authors: C
authors: Cavicchi
authors: Amelia
authors: A
authors: Morrone
authors: Federica
authors: F
authors: Ciani
authors: Silvia
authors: S
authors: Funghini
authors: Fabio
authors: F
authors: Villanelli
authors: Enrico
authors: E
authors: Zammarchi
authors: Renzo
authors: R
authors: Guerrini