Diseases
|
Deficient Enzyme/ Accumulated substrate
|
Finding
|
SPHINGOLIPIDOSES
| ||
Fabry’s diseases
(XR)
|
α-galactosidase A
Ceramide trihexoside
|
Peripheral neuropathy of hand/feet, angiokeratomas, cardiovascular/renal diseases
|
Gaucher’s disease
(AR)
|
β-glucocerebrosidase
Glucocerebroside
|
More common and benign.
Hepatosplenomegaly, aseptic necrosis of femur, bone crises,
(crumpled tissue paper)
|
Niemann Pick disease
(AR)
|
Sphingomyelinase
Sphingomyelin
|
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
|
Tay-Sachs disease
(AR)
|
Hexosaminidase A
GM2 (ganglioside)
|
Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosome with onion skin
|
Krabbe’s disease
(AR)
|
Galactocerebrosidase
Galactocerebroside
|
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
|
Metachromatic leukodystrophy
(AR)
|
Arylsulfatase A
Cerebroside sulfate
|
Central and peripheral demyelination with ataxia, dementia
|
MUCOPOLYSACCHARIDOSES
| ||
Hurler’s diseases
(AR)
|
α-L-idorunidase/
Heparan sulfate
Dermatan sulfate
|
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
|
Hunter’s diseases
(XR)
|
Iduronate sulfatase/
Heparan sulfate
Dermatan sulfate
|
Mild Hurler + aggressive behavior, no corneal clouding
|
[1] (Le, Bhushan, & Grimm, 2011)
Le, T., Bhushan, V., & Grimm, L. (2011). Fisrt AID for the USMLE step 1. usa: McGraw Hill.
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