Diagnosis of α-l-Iduronidase Deficiency in Dried Blood Spots on Filter Paper: The Possibility of Newborn Diagnosis
- 1 April 2001
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 47 (4), 780-781
- https://doi.org/10.1093/clinchem/47.4.780
Abstract
Mucopolisaccharidosis type I (MPS I), produced by a deficiency of α-l-iduronidase (EC 3.2.1.76) activity, can manifest three major clinical phenotypes: Hurler, Scheie, and Hurler-Scheie syndromes. The clinical phenotypes cannot be differentiated by routine biochemical diagnostic procedures. Mutation analysis allows the classification of some patients, but in most cases assignment to an MPS I type can be made only on the basis of clinical criteria (1).Keywords
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