Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic

نویسندگان

چکیده

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence certain lysosomal enzymes responsible for breakdown mucopolysaccharides, causing an accumulation glycosaminoglycans (GAGs) throughout body. type I (MPS I), also called Hurler syndrome, autosomal recessive storage disorder resulting from enzyme α-L-iduronidase. This report aims to present clinical findings and diagnosis 21-month-old female with no history similar cases in their previous generations. The was considered based on radiological characteristics syndrome (HS) confirmed biochemically, becoming first case Dominican Republic.

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ژورنال

عنوان ژورنال: Journal of inborn errors of metabolism and screening

سال: 2023

ISSN: ['2326-4594', '2326-4098']

DOI: https://doi.org/10.1590/2326-4594-jiems-2022-0008