Neonatal Test Developed for Lethal Genetic Metabolic Disease

An assay capable of screening newborns for a fatal genetic disease within the first 48 hours of life enables rapid diagnosis and immediate intervention.

The screening test, which identifies the succinylacetone marker in a single drop of blood, is 100% specific for detecting the disease Tyrosinemia Type I, a rare metabolic genetic disease that is lethal if untreated, but curable if detected early.

The NeoBase kit for Tyrosinemia was developed by the Meyer Children's Hospital (Florence, Italy) in collaboration with PerkinElmer, Inc., (Waltham, MA, USA). The PerkinElmer NeoBase assays are nonderivatized kits for use with tandem mass spectrometry (MSMS). The analysis time per sample for the whole acylcarnitine and amino acid profile is typically less than two minutes.

To date, over 260,000 newborns have been screened for the disease with over 160 diagnoses confirmed. By the end of 2009, the first Italian newborn affected by asymptomatic Tyrosinemia Type I was identified by the novel biomarker assay at the Meyer Hospital and the second in September 2010. This disease is due to an enzymatic deficiency that causes an inability to break down the amino acid tyrosine, which synthesizes proteins.

Symptoms of Tyrosinemia Type I appear in the first few months of life, and if untreated, tyrosine accumulation can lead to kidney and liver failure, severe nervous system disorders, and possibly liver tumors. Blas Cerda, PhD, codeveloper of the NeoBase kit, said, " Tyrosinemia Type I is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase, and its incidence is estimated at approximately one in 100,000 to 120,000 newborns. We are pleased to offer a screening test that identifies newborns at risk of having this debilitating genetic disorder."

Related Links:
Meyer Children's Hospital
PerkinElmer, Inc.