title: I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.
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.
authors: Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India. pediaankur@gmail.com.
authors: Ankur
authors: A
authors: Singh
authors: Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India.
authors: Rajniti
authors: R
authors: Prasad
authors: Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India.
authors: Aditya Kumar
authors: AK
authors: Gupta
authors: Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India.
authors: Anil
authors: A
authors: Sharma
authors: Research and Development Unit, Department of Human Genetics, National Institute of Health Dr. Ricardo Jorge, Porto, Portugal.
authors: Sandra
authors: S
authors: Alves
authors: Research and Development Unit, Department of Human Genetics, National Institute of Health Dr. Ricardo Jorge, Porto, Portugal.
authors: Maria Francisca
authors: MF
authors: Coutinho
authors: Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India.
authors: Seema
authors: S
authors: Kapoor
authors: Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India.
authors: Om Prakash
authors: OP
authors: Mishra
mesh_terms: D002396:Catechols; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis*; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D010641:Phenotype
chemical_list: D002396:Catechols; C021228:4-nitrocatechol sulfate
keywords: GNPTAB; Molecular characterization; Mucolipidosis type II alpha/beta (ML II alpha/beta); p-nitrocatechol sulphate (p-NCS)