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Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes

✍ Scribed by Kassmann, Celia M; Lappe-Siefke, Corinna; Baes, Myriam; Brügger, Britta; Mildner, Alexander; Werner, Hauke B; Natt, Oliver; Michaelis, Thomas; Prinz, Marco; Frahm, Jens

Book ID
109919590
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
586 KB
Volume
39
Category
Article
ISSN
1061-4036

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We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously to cause rhizomelic chondroplasia punctata (RCDP).