Abstract:Deficiency of the enzyme β‐galactosidase due to variants in the GLB1‐gene is associated with metabolic disorders: Morquio B and GM1‐gangliosidosis. Here, we report a case compound heterozygous for variants in the GLB1‐gene and a severe muscular phenotype. Full body T1‐w MRI was conducted for muscular involvement. Biopsy was stained with hematoxylin and eosin for histopathological evaluation. EDTA blood‐sample was subjected to whole exome sequencing. Metabolic analysis included residual enzyme activity and eval… Show more
“…Deficiencies in lysosomal β-galactosidase result in lysosomal storage disorders, such as GM1-gangliosidosis, Morquio B syndrome (also known as mucopolysaccharidosis type IV) and galactosialidosis. 185…”
Section: Glycosidase Inhibitorsmentioning
confidence: 99%
“…Deficiencies in lysosomal b-galactosidase result in lysosomal storage disorders, such as GM1-gangliosidosis, Morquio B syndrome (also known as mucopolysaccharidosis type IV) and galactosialidosis. 185 Misfolded or unassembled mutant lysosomal glycosidases are eliminated through ER-associated protein degradation (ERAD) pathways. 186 Defects in lysosomal glycosidases lead to accumulation of undigested glycoconjugates in lysosomes, which eventually causes lysosomal storage disorders (Fig.…”
Recent advances made in the discovery of glycosidase-targeting small molecules for detection of glycosidases and treatment of glycosidase-associated diseases are discussed.
“…Deficiencies in lysosomal β-galactosidase result in lysosomal storage disorders, such as GM1-gangliosidosis, Morquio B syndrome (also known as mucopolysaccharidosis type IV) and galactosialidosis. 185…”
Section: Glycosidase Inhibitorsmentioning
confidence: 99%
“…Deficiencies in lysosomal b-galactosidase result in lysosomal storage disorders, such as GM1-gangliosidosis, Morquio B syndrome (also known as mucopolysaccharidosis type IV) and galactosialidosis. 185 Misfolded or unassembled mutant lysosomal glycosidases are eliminated through ER-associated protein degradation (ERAD) pathways. 186 Defects in lysosomal glycosidases lead to accumulation of undigested glycoconjugates in lysosomes, which eventually causes lysosomal storage disorders (Fig.…”
Recent advances made in the discovery of glycosidase-targeting small molecules for detection of glycosidases and treatment of glycosidase-associated diseases are discussed.
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