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.
منابع مشابه
Hurler Syndrome ( Severe Type ) - A Rare Case Report
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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