Mucopolysaccharidosis-plus syndrome
Definition:
Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels of plasma heparan sulphate. Additionally, most patients develop heart, kidney, and hematopoietic disorders. It has been suggested that mutations in the VPS33A gene might be responsible for this disease. VPS33A plays a role in the vesicular transport system.
References:
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[1]. Ali Dursun, et al. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. Clin Dysmorphol. 2017 Jan;26(1):1-12. [Content Brief]
[2]. Hidehito Kondo, et al. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. Hum Mol Genet. 2017 Jan 1;26(1):173-183. [Content Brief]
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