Abstract
A 5-year-old girl with clinical and biochemical phenotypes encompassing both GM1-gangliosidosis (GM1) and Morquio B disease (MBD) is described. Mild generalized skeletal dysplasia and keratan sulfaturia were consistent with a diagnosis of MBD, while developmental delay and GM1-specific oligosacchariduria were consistent with GM1 gangliosidosis. No observable β-galactosidase activity was detected in leukocytes, and two mutations, p.R201H (c.602G>A) and p.G311R (c.931G>A), were identified by gene sequencing. The R201H substitution has been previously reported in patients with both GM1 and MBD, and G311R is a novel mutation. Our patient represents a further example of the clinical heterogeneity that can result from mutations at the β-galactosidase locus.
Competing interests: None declared
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Communicated by: Maurizio Scarpa
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We present a case report of a 5-year-old girl with clinical and biochemical phenotypes encompassing both GM1-gangliosidosis (GM1) and Morquio B disease (MBD).
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Moore, T., Bernstein, J.A., Casson-Parkin, S., Cowan, T.M. (2012). β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_145
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DOI: https://doi.org/10.1007/8904_2012_145
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