I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

Singh, Ankur; Prasad, Rajniti; Gupta, Aditya Kumar; Sharma, Anil; Alves, Sandra; Coutinho, Maria Francisca; Kapoor, Seema; Mishra, Om Prakash

http://hdl.handle.net/10400.18/4285

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Authors

Coutinho, Maria Francisca

Kapoor, Seema

Mishra, Om Prakash

Abstract(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.