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Publicação
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
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Orientador(es)
Resumo(s)
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case.
Descrição
Palavras-chave
GNPTAB Mucolipidosis type II alpha/beta (ML II alpha/beta) p-nitrocatechol sulphate (p-NCS) Molecular characterization Doenças Genéticas
Contexto Educativo
Citação
Indian J Pediatr. 2017 Feb;84(2):144-146. doi: 10.1007/s12098-016-2243-7. Epub 2016 Oct 27.
Editora
Springer Verlag/ Dr. K C Chaudhuri Foundation