Clinical Considerations: Lysosomal Storage Diseases
- Lysosomal storage diseases are hereditary disorders caused by deficient lysosomal acid hydrolases.
- Lysosomal enzyme deficiency prevents degradation of specific compounds inside lysosomes.
- Undegraded compounds accumulate in lysosomal storage diseases and interfere with cell function.
- Tay-Sachs disease results from deficiency of hexosaminidase A.
- Hexosaminidase A is a lysosomal enzyme needed to degrade certain glycolipids.
- GM2 gangliosides accumulate in neuronal lysosomes in Tay-Sachs disease.
- Gangliosides are glycolipids especially important in nervous tissue membranes.
- Central nervous system degeneration in Tay-Sachs disease results from ganglioside buildup in neurons.
- Tay-Sachs disease is most common in children of central European Jewish descent.
- Tay-Sachs disease usually causes death before 4 years of age in the severe childhood form.
- Hurler syndrome is a lysosomal storage disease in which glycosaminoglycans and proteoglycans accumulate in organs.
- Glycosaminoglycans (GAGs) are long carbohydrate chains found in connective tissue proteoglycans.
- Proteoglycans are proteins with glycosaminoglycan chains attached.
- Alpha-L-iduronidase deficiency causes classic Hurler syndrome.
- Hurler syndrome can affect the heart, brain, liver, and other organs.
- Hurler syndrome can cause skeletal deformities, enlarged organs, progressive intellectual deterioration, deafness, and early death.
- Glycogen storage diseases are hereditary disorders affecting glycogen synthesis or degradation.
- Glycogen accumulation most often involves the liver, skeletal muscle, and heart in glycogen storage diseases.
- Organ involvement in glycogen storage disease depends on the particular enzyme defect.
- Distinct glycogen storage diseases number at least 10.
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