Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
نویسندگان
چکیده
منابع مشابه
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
BACKGROUND Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are available. Better outcomes are associated with early treatment, which suggests a need for newborn scre...
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Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism. The primary enzyme defect has been attributed to a deficiency of fumarylacetoacetase (EC 3.7.1.2) (1 ). Tyr-I is usually asymptomatic in newborns, but if left untreated it affects liver, kidney, bone, and peripheral nerves; in its most severe form, affected infants may die fro...
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Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities in dried blood spots on newborn screening cards has emerged as a powerful technique for early assessment of lysosomal storage diseases. Here we report the design and process-scale synthesis of substrates for the enzymes α-l-iduronidase, iduronate-2-sulfatase, and N-acetylgalactosamine-4-sulfatase that are ...
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The introduction of tandem mass spectrometry technology expands newborn screening and permits early diagnosis of inborn errors of metabolism. Through measurement of a number of acyl carnitines, amino acids and associated ratios, infants at risk of inborn errors of metabolism can be detected. However the increasing availability of the technology places new challenges to areas with established pr...
متن کاملLaronidase for treating mucopolysaccharidosis type I.
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, blood and connective tissues, and increased amounts are excreted in the urine. The result is permanent and includes progressive cell damage that affects the individual's appea...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2017
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2016.11.036