Two children with LPI. The pictures were taken at the time of diagnosis. A, Child 12 years old. B, Child 6 years old. Note the prominent abdomen, hypotrophic.

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Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts

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Two children with LPI. The pictures were taken at the time of diagnosis. A, Child 12 years old. B, Child 6 years old. Note the prominent abdomen, hypotrophic muscles, and “loose” skin. The thorax of the child in A is deformed and her trunk shortened because of osteoporosis and pathologic fractures of the vertebrae. Source: Lysinuric Protein Intolerance and Other Cationic Aminoacidurias, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: http://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch192fg2.png&sec=62654126&BookID=971&ChapterSecID=62654109&imagename= Accessed: November 03, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved