Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of the α-L-iduronidase enzyme, resulting in the progressive accumulation of glycosaminoglycans (GAGs), which interfere with the normal function of multiple tissues and organs. The clinical phenotype incl...

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Bibliographic Details
Main Authors: Nishitha R. Pillai, Alia Ahmed, Todd Vanyo, Chester B. Whitley
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
Hurler syndrome
MPS IH
newborn screening
enzyme replacement therapy
hematopoietic stem cell transplant
cardiomyopathy
Online Access:https://www.mdpi.com/2073-4425/13/8/1293

Internet

https://www.mdpi.com/2073-4425/13/8/1293

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