Article
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Human molecular genetics - 1 Jan 2017
Kondo Hidehito, Maksimova Nadezda, Otomo Takanobu, Kato Hisakazu, Imai Atsuko, Asano Yoshihiro, Kobayashi Kaori, Nojima Satoshi, Nakaya Akihiro, Hamada Yusuke, Irahara Kaori, Gurinova Elizaveta, Sukhomyasova Aitalina, Nogovicina Anna, Savvina Mira, Yoshimori Tamotsu, Ozono Keiichi, Sakai Norio
Abstract excerpt
Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease caused by a specific mutation in the VPS33A gene. We identified several Yakut patients showing typical manifestations of MPS: coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, mental retardation, and excess...
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