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Lysosomal storage diseases in adults
1Children's Hospital, University of Helsinki, Finland.
Pathology, Research and Practice
|September 1, 1994
Summary
Adult-onset lysosomal storage disorders are increasingly recognized, presenting with distinct clinical signs and varying severity compared to pediatric forms. Molecular genetics and enzyme activity explain these late-onset manifestations.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Lysosomal storage disorders (LSDs) are traditionally viewed as pediatric diseases.
- Recognition of late-onset and adult forms of LSDs has grown significantly.
- Adult LSDs often exhibit different clinical presentations and severity than childhood forms.
Purpose of the Study:
- To highlight the distinct characteristics of adult-onset lysosomal storage disorders.
- To provide examples of LSDs that manifest in adulthood.
- To explore the underlying molecular and enzymatic factors contributing to late-onset disease.
Main Methods:
- Review of clinical and genetic data for selected LSDs.
- Analysis of molecular genetics findings in adult-onset cases.
- Assessment of residual enzyme activity and pseudodeficiency alleles.
Main Results:
- Adult LSDs are generally less common but present with unique clinical signs.
- Examples include adult forms of metachromatic leukodystrophy, GM1 and GM2 gangliosidoses, Gaucher disease, and aspartylglucosaminuria.
- Differences in onset and presentation are linked to molecular genetics, residual enzyme function, and pseudodeficiency.
Conclusions:
- Lysosomal storage disorders can manifest significantly later in life with distinct phenotypes.
- Understanding these late-onset forms is crucial for accurate diagnosis and management.
- Molecular and enzymatic factors play a key role in the variability of LSD presentation.