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Tag Robert J. Desnick

The Porphyrias

Porphyrias are metabolic diseases resulting from altered activities of specific enzymes of the heme biosynthetic pathway. These enzymes are most active in bone marrow and liver. Erythropoietic porphyrias , in which overproduction of heme pathway intermediates occurs primarily in bone…

Fabry disease

1. What is Fabry disease? Fabry disease is a systemic, X-linked, lysosomal storage disorder that results from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the lysosomal accumulation of its primary glycolipid substrate, globotriaosylceramide (GL-3). The progressive…