Lysosomal Storage Diseases

  • Each is caused by a deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products.
  • Sphingolipidoses
Tay-Sachs disease



Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula (A), lysosomes with onion skin, no hepatosplenomegaly (vs Niemann-Pick). HeXosaminidase A (“TAy-SaX”) GM2 ganglioside AR
Fabry disease Early: Triad of episodic peripheral neuropathy, angiokeratomas (B), hypohidrosis, telangiectasias

Late: progressive renal failure, cardiovascular disease (TIA, stroke, LVH).

α-galactosidase A Ceramide trihexoside XR
Metachromatic leukodystrophy Central and peripheral demyelination with ataxia, dementia. Arylsulfatase A Cerebroside sulfate AR
Krabbe disease Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells. Galactocerebrosidase Galactocerebroside, psychosine AR
Gaucher disease Most common. Hepatosplenomegaly, pancytopenia (pallor, easy bruising, fatigue), osteoporosis, avascular necrosis of femur, bone crises, Gaucher cells (C) (cerebroside & glycolipid-laden macrophages resembling crumpled tissue paper).



Glucocerebrosidase (β-glucosidase); treat with recombinant glucocerebrosidase Glucocerebroside AR
Niemann-Pick disease Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) (D), “cherry-red” spot on macula (A). Sphingomyelinase Sphingomyelin AR
  • Mucopolysaccharidoses
Hurler syndrome Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. α-l-iduronidase Heparan sulfate, dermatan sulfate AR
Hunter syndrome Mild Hurler + aggressive behavior, no corneal clouding. Iduronate-2-sulfatase Heparan sulfate, dermatan sulfate XR
  • No man picks (Niemann-Pick) his nose with his sphinger (sphingomyelinase).
  • Tay-SaX lacks heXosaminidase.
  • Hunters see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive).
  • ↑ incidence of Tay-Sachs, Niemann-Pick, and some forms of Gaucher disease in Ashkenazi Jews.


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