lysosomal disorder

pathology

Also known as: lysosomal storage disease

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Last updated

June 30, 2026

Quick Summary

Lysosomal disorders are a group of genetic diseases caused by a deficiency in specific enzymes within the lysosomes. Lysosomes are cellular organelles responsible for breaking down macromolecules. When an enzyme is absent or has reduced activity, these macromolecules accumulate within the lysosomes, leading to cellular damage and various symptoms.

These disorders often manifest with neurological involvement at birth or in early childhood. Symptoms can include psychomotor retardation, seizures, and visual abnormalities. Examples of lysosomal disorders include Tay-Sachs disease, Gaucher disease, and Niemann-Pick disease. While some forms primarily affect peripheral tissues, others severely impact the central nervous system. Many of these conditions currently lack effective therapies, particularly those affecting the brain due to the blood-brain barrier.

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metabolic disease
Lysosomal storage disorders
Lysosomes are cytoplasmic organelles in which a variety of macromolecules are degraded by different acid hydrolase enzymes. Lysosomal enzymes are coded for by nuclear DNA and are targeted to lysosomes by specific recognition markers. If a lysosomal enzyme is absent or has…
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Lysosomes are cytoplasmic organelles in which a variety of macromolecules are degraded by different acid hydrolase enzymes. Lysosomal enzymes are coded for by nuclear DNA and are targeted to lysosomes by specific recognition markers. If a lysosomal enzyme is absent or has…
Read More

lysosome
Lysosomal storage diseases are genetic disorders in which a genetic mutation affects the activity of one or more of the acid hydrolases. In such diseases, the normal metabolism of specific macromolecules is blocked and the macromolecules accumulate inside the lysosomes, causing severe physiological damage or…
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Lysosomal storage diseases are genetic disorders in which a genetic mutation affects the activity of one or more of the acid hydrolases. In such diseases, the normal metabolism of specific macromolecules is blocked and the macromolecules accumulate inside the lysosomes, causing severe physiological damage or…
Read More

nervous system disease
Disorders of fat and fatty acid metabolism
Lysosomal diseases are caused by the accumulation of substances that are normally metabolized in the cellular structures called lysosomes. These disorders often produce symptoms of neurological involvement at birth or in the early years of childhood.
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Lysosomal diseases are caused by the accumulation of substances that are normally metabolized in the cellular structures called lysosomes. These disorders often produce symptoms of neurological involvement at birth or in the early years of childhood.
Read More