Three cases of beta-galactosidase deficiency

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• GM1-gangliosidosis is a lysosomal storage disorder caused by beta-galactosidase deficiency.
• Clinical manifestations typically include severe neurological impairment and dysmorphic features.

Observation:

• Three cases of beta-galactosidase deficiency were analyzed.
• Two cases presented with classical infantile GM1-gangliosidosis.
• A third atypical case exhibited dysostosis multiplex, growth retardation, and normal intelligence.

Findings:

• All patients showed elevated urinary mucopolysaccharides and oligosaccharides.
• Classical GM1-gangliosidosis cases had very low beta-galactosidase activity.
• The atypical case demonstrated a less severe enzyme deficiency.

Implications:

• These findings underscore the significant clinical variability in beta-galactosidase deficiency.
• Understanding this spectrum is crucial for accurate diagnosis and management.
• Further research into genotype-phenotype correlations is warranted.