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PerkinElmer, Inc.. (1/13/11). "Press Release: PerkinElmer and the Meyer Children’s Hospital of Florence Co-develop Early Diagnostic for Lethal Genetic Metabolic Disease Affecting Newborns". Waltham, MA & Florence.

Organisation Organisation PerkinElmer Inc. (NYSE: PKI)
  Group PerkinElmer (Group)
Product Product  mass spectrometry (MS)

Global leader in neonatal diagnostic screening and Italian research hospital collaborate on test for Tyrosinemia Type I, a potentially fatal disorder that is curable if detected early

PerkinElmer, Inc., a global leader focused on the health and safety of people and the environment, and the Meyer Children's Hospital of Florence, a leading Italian research center, today announced their successful collaboration in developing an early stage neonatal diagnostic test for Tyrosinemia Type I, a rare metabolic genetic disease that is lethal if untreated, but curable if detected early.

Tyrosinemia Type I is 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.

The NeoBase™ test developed by PerkinElmer and Meyer is capable of screening newborns for the disease within the first 48 hours of life, enabling rapid diagnosis and immediate intervention by clinicians, through diet modification, medication or surgery. The screening test, which identifies the disease via the Succinylacetone marker in a single drop of blood, is 100 percent specific for detecting Tyrosinemia Type I.

According to Scott Palubiak, vice president, Neonatal Screening, Specialty Diagnostics, PerkinElmer, "Until the development of this new screening test, the diagnosis of Tyrosinemia Type I relied mainly on clinical observation of newborns over their first few months - which enabled the disease to progress to the point where severe intervention was required, possibly even a liver transplant. This disorder was remarkably difficult to detect, in contrast to the ease in which it can be cured if diagnosed early enough."

Dr. Giancarlo la Marca, co-developer of the Tyrosinemia Type I test and researcher at the Pharmacology Department of the University of Florence and at the mass spectrometry lab of Meyer Children's Hospital, said, "With the development of the Succinylacetone assay, the test has been introduced into extended neonatal screening panels in most industrialized countries due to the incidence and severity of the disease, and the presence of effective therapies."

Dr. la Marca added, "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 at the Meyer Hospital and the second in September 2010, thanks to the novel biomarker assay - which can provide hope to the thousands of newborns each year who are afflicted with this very challenging and often lethal disorder."

Dr. Blas Cerda, director of Clinical Tandem Mass Spectrometry R&D at PerkinElmer, and co-developer of the NeoBase Kit, noted, "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."

About the Meyer Children's Hospital of Florence

The Meyer Children's Hospital of Florence is a major Italian clinical research and treatment hospital that sees over 7,000 ordinary admissions and more than 11,000 visits to the Day Hospital each year. With recent upgrades to the hospital's Center of High Specialization enabling greater and more fully-developed areas of intervention, Meyer is increasingly known as a "children's polyclinic".

Meyer is committed to confirming its position among the most innovative and effective institutions in Italy in the field of pediatrics and scientific research. More information is available through

About PerkinElmer, Inc.

PerkinElmer, Inc. is a global leader focused on improving the health and safety of people and the environment. The Company has approximately 6,000 employees serving customers in more than 150 countries, and is a component of the S&P 500 Index. Additional information is available through or 1-877-PKI-NYSE.


PerkinElmer, Inc.
Mario Fante, 781-663-5602
Corporate Public Relations Manager

Record changed: 2016-03-19


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