title: Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.
abstract: Pediatric hepatology appears to be a very specific field of paediatrics which deals mainly with rare diseases although clinical features can be commonly found - like increased activity of transaminases. Some of these rare diseases like Wilson disease are commonly looked for and recently Wilsonian like phenotypes have been described which additionally presented with abnormal glycosylation of the plasma protein transferrin. In a subgroup of those patients with specific additional clinical symptoms (cleft uvula, low blood sugar, rhabdomyolysis and dilated cardiomyopathy) phosphoglucomutase 1 deficiency was identified. We recommend screening for abnormal glycosylation of the plasma protein transferrin in children with unexplained liver injury.
authors: Department of Gastroenterology, Hepatology and Nutrition Disorders, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: p.socha@czd.pl.
authors: Piotr
authors: P
authors: Socha
authors: Department of Medicine and Surgery, Pediatrics Section, University of Salerno, Baronissi (Salerno), Italy.
authors: Pietro
authors: P
authors: Vajro
authors: Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Dirk
authors: D
authors: Lefeber
authors: Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
authors: Maciej
authors: M
authors: Adamowicz
authors: University of Sheffield, UK, Academic Unit of Child Health, Sheffield Children's Hospital, Western Bank, Sheffield, UK.
authors: Stuart
authors: S
authors: Tanner
mesh_terms: D003937:Diagnosis, Differential; D006031:Glycosylation; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis; D008659:Metabolic Diseases / Q000175:diagnosis*; D035583:Rare Diseases / Q000175:diagnosis*