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av R G 14 år siden

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Lysosomal Storage Diseases

A variety of genetic disorders known as lysosomal storage diseases encompass several syndromes, each with distinct clinical features and genetic backgrounds. These diseases often lead to significant health issues due to the accumulation of substances in lysosomes, impairing cellular function.

Lysosomal Storage Diseases

Lysosomal Storage Diseases

Demyelination

Metachromatic leukodystrophy

Peripheral neuropathy

Optic atrophy; Globoid cells
Krabbe's Disease
PN of hands/feet; Renal Failure; XLR
Fabry's

Ashkenazi Jews

Cherry Red Spot on Macula

Progressive neurodegeneration

No Hepatosplen

Tay-Sachs

Lysosomes + Onion Skin

Hepatosplen

Niemann-Pick

Foam cells

Most Common/Crumpled Tissue Paper
Gaucher's

Aseptic necrosis of femur

Bone crises

NO CC

Hunter's syndrome

Corneal cloud

Hurler's syndrome