β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.

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 evaluation urinary substrate secretion. Additionally, electroneurography, echocardiography, forced volume capacity and biochemistry were evaluated. Examination showed severe proximal weakness (MRC: hip flexion 2, hip extension 2, and shoulder rotation 2), Gower's sign, no ex

SUBMITTER: Pedersen JJ 

PROVIDER: S-EPMC9626661 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature