title: β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
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.
authors: Department of Pathology, Stanford University, 3375 Hillview Avenue, Palo Alto, CA, 94303, USA, tereza@stanford.edu.
authors: Tereza
authors: T
authors: Moore
authors: Jonathan A
authors: JA
authors: Bernstein
authors: Sylvie
authors: S
authors: Casson-Parkin
authors: Tina M
authors: TM
authors: Cowan