Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic

Abstract Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence of certain lysosomal enzymes responsible for the breakdown of mucopolysaccharides, causing an accumulation of glycosaminoglycans (GAGs) throughout the body. Mucopolysaccharidosis type...

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Bibliographic Details
Published inJournal of inborn errors of metabolism and screening Vol. 11
Main Authors Baez-Nicodemo, Kimberly, Ortiz, Isi, Acevedo, Noemi
Format Journal Article
LanguageEnglish
Portuguese
Published Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2023
SciELO
Subjects
genetics
GENETICS & HEREDITY
lysosomal storage disorder
mucopolysaccharide
Mucopolysaccharidosis I
Mucopolysaccharidosis I
genetics
mucopolysaccharide
lysosomal storage disorder
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Summary:Abstract Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence of certain lysosomal enzymes responsible for the breakdown of mucopolysaccharides, causing an accumulation of glycosaminoglycans (GAGs) throughout the body. Mucopolysaccharidosis type I (MPS I), also called Hurler syndrome, is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the enzyme α-L-iduronidase. This report aims to present the clinical findings and diagnosis of a 21-month-old female with no history of similar cases in their previous generations. The diagnosis was considered based on the clinical and radiological characteristics of Hurler syndrome (HS) and confirmed biochemically, becoming the first confirmed case in the Dominican Republic.
ISSN:2326-4594
2326-4594
DOI:10.1590/2326-4594-jiems-2022-0008