Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic
J. inborn errors metab. screen
;
11: e20220008, 2023. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1430697
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
País/Região como assunto:
Caribe Inglês
/
Dominica
/
República Dominicana
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2023
Tipo de documento:
Artigo
País de afiliação:
República Dominicana
Instituição/País de afiliação:
Hospital Infantil Regional Universitario Dr. Arturo Grullón/DO
/
Pontificia Universidad Católica Madre y Maestra/DO
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