Search for rare liver diseases: The case of glycosylation defects mimicking Wilson Disease -> - 11/09/14

Doi : 10.1016/j.clinre.2014.04.012

Piotr Socha ^a,^⁎ , Pietro Vajro ^b, Dirk Lefeber ^c, Maciej Adamowicz ^d, Stuart Tanner ^e
^a Department of Gastroenterology, Hepatology and Nutrition Disorders, The Children's Memorial Health Institute, Warsaw, Poland
^b Department of Medicine and Surgery, Pediatrics Section, University of Salerno, Baronissi (Salerno), Italy
^c Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands
^d Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland
^e University of Sheffield, UK, Academic Unit of Child Health, Sheffield Children's Hospital, Western Bank, Sheffield, UK

^⁎Corresponding author. Tel.: +48 815 73 84.

Bienvenido a EM-consulte, la referencia de los profesionales de la salud.
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Summary

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.

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Abbreviations : Tf, IEF, CDG, Sia, Man, GlcNAc, Gal