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

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Abstract

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.

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Contributions

AS collected information, made diagnosis and wrote the manuscript; RP, AKG, AniS did literature search and helped in drafting the manuscript; SA, MFC did molecular testing and analysed the results; SK and OPM did critical evaluation of manuscript and gave final approval. OPM will act as guarantor for the paper.

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Authors and Affiliations

  1. Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India

    Ankur Singh, Rajniti Prasad, Aditya Kumar Gupta, Anil Sharma & Om Prakash Mishra

  2. Research and Development Unit, Department of Human Genetics, National Institute of Health Dr. Ricardo Jorge, Porto, Portugal

    Sandra Alves & Maria Francisca Coutinho

  3. Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India

    Seema Kapoor

Authors
  1. Ankur Singh
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  2. Rajniti Prasad
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  3. Aditya Kumar Gupta
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  4. Anil Sharma
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  5. Sandra Alves
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  6. Maria Francisca Coutinho
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  7. Seema Kapoor
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  8. Om Prakash Mishra
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Corresponding author

Correspondence to Ankur Singh.

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Conflict of Interest

None.

Source of Funding

Coutinho MF is grantee from the FCT (SFRH/BPD/101965/2014).

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Singh, A., Prasad, R., Gupta, A.K. et al. I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. Indian J Pediatr 84, 144–146 (2017). https://doi.org/10.1007/s12098-016-2243-7

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  • DOI: https://doi.org/10.1007/s12098-016-2243-7

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