Mucopolysaccharidoses Types I-VII Medication

Updated: Nov 29, 2017
  • Author: Janette Baloghova, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Medication

Medication Summary

N- acetylgalactosamine-4-sulfatase is a recombinant human enzyme used to treat mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Most attempts at enzyme replacement in various forms of mucopolysaccharidosis have not been successful. Alpha-L-iduronidase is a recombinant human enzyme used to treat mucopolysaccharidosis type I that received US patent approval in November 2001 and was approved in April 2003 as a proprietary product. Laronidase (Aldurazyme), present in cell lysosomes, helps to break down mucopolysaccharides. In mucopolysaccharidosis type I patients, mucopolysaccharides accumulate in organs and tissues, particularly in the CNS, the liver, the spleen, the heart, and the skeleton. This accumulation leads to cell death and progressive tissue and organ damage. [61]

Elosulfase alfa (Vimizim) was approved in February 2014 as an enzyme replacement for N -acetylgalactosamine-6 sulfatase (GALNS) deficiency in MPS IVA (Morquio A syndrome).

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Enzymes

Class Summary

Enzyme replacement therapy may provide clinically important benefits (ie, improved pulmonary function and walking ability, reduced excess carbohydrates stored in organs).

Laronidase (Aldurazyme)

Laronidase is indicated to treat MPS type I (Hurler syndrome, Scheie syndrome, Hurler-Scheie syndrome). It is used to increase catabolism of GAGs, which accumulate with MPS type I. Treatment has been shown to improve walking capacity and pulmonary function. Laronidase is a polymorphic variant of the human enzyme alpha-L-iduronidase produced by recombinant DNA technology.

Idursulfase (Elaprase)

Idursulfase is a purified form of human I2S, a lysosomal enzyme. It hydrolyzes 2-sulfate esters of terminal iduronate sulfate residues from the GAGs dermatan sulfate and heparan sulfate in the lysosomes of various cell types. It is indicated for MPS type II (Hunter syndrome) because it replaces insufficient levels of the lysosomal enzyme I2S.

Elosulfase alfa (Vimizim)

Elosulfase alfa replaces deficient enzyme N-acetylgalactosamine-6 sulfatase (GALNS) to minimize progressive multisystemic manifestations of Morquio A syndrome. The enzyme is taken up into the lysosomes and increases catabolism of GAGs KS and C6S.

Vestronidase alfa-vjbk (Mepsevii)

Recombinant human lysosomal beta glucuronidase (GUS) is intended to provide exogenous GUS enzyme for uptake into cellular lysosome; mannose-6-phosphate (M6P) residues on the oligosaccharide chains allow binding of the enzyme to cell surface receptors, leading to cellular uptake of the enzyme, targeting to lysosomes, and subsequent catabolism of accumulated GAGs in affected tissues.

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