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Sphingomyelin
4%
11/264
Ceramide trihexose
64%
169/264
Galactocerebroside
19%
51/264
Glucocerebroside
GM2 ganglioside
6%
16/264
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Due to the lack of alpha-galactosidase A enzyme activity, there will be a buildup of ceramide trihexose in the lysosomes of this individual. The clinical presentation of angiokeratomas, painful parasthesias, and a decreased alpha-galactosidase A enzyme activity point towards a diagnosis of Fabry's disease. This disease is caused by a deficiency of lysosomal alpha-galactosidase A, leading to a buildup of ceramide trihexose, which leads to the above clinical presentation. Other consequences of this disease include cardiovascular disease and renal disease. Fabry's disease is inherited in an X-linked recessive manner. Mehta and Hughes discuss the characteristics of Fabry disease. Onset of disease is in childhood or adolescence beginning with acroparesthesias, appearance of angiokeratomas, anhydrosis/hypohydrosis, proteinuria, and corneal/lenticular opacities. As the disease progresses, renal function begins to deteriorate during the 3-5th decade of life. If renal symptoms are successfully treated, the next major causes of morbidity and mortality are cardiac and cerebrovascular diseases. Pisani et al. review the current enzyme replacement therapies (ERT) available for Fabry disease. Agalsidase alfa (Europe-approved) and agalsidase beta (US & Europe) are the two current ERTs used to treat Fabry disease and have shown great improvements in reducing the serum levels of ceramide trihexoside and improving pain, hypohidrosis, GI issues, and the quality of life. Figure A shows the appearance of small, red papules (angiokeratomas) on the buttocks. Incorrect Answers: Answer 1: In Niemann-Pick disease, sphingomyelinase is deficient leading to a build up of sphingomyelin. Answer 3: In Krabbe's disease, beta-galactocerebrosidase is deficient leading to a build up of galactocerebroside. Answer 4: In Gaucher's disease, beta-glucocerebrosidase is deficient leading to a build up of glucocerebroside. Answer 5: In Tay Sachs disease, hexosaminidase A is deficient leading to a build up of GM2 ganglioside.
4.3
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