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Article

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

Genes - 22 Jul 2022

Pillai Nishitha R, Ahmed Alia, Vanyo Todd, Whitley Chester B

Abstract excerpt

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 includes characteristic facial features, hepatosplenomegaly, dysostosis multiplex, umbilical and inguinal hernias,...

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Identifiers

PMID: 35893030
DOI: 10.3390/genes13081293
PMCID: PMC9331972

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