Review Articles
Liver Involvement in Congenital Disorders of Glycosylation
A Systematic Review
Rossella Colantuono,
Elisa D'Acunto,
Daniela Melis,
Pietro Vajro,
Hudson H. Freeze,
Claudia Mandato,
Rossella Colantuono
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorElisa D'Acunto
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorDaniela Melis
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorPietro Vajro
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorHudson H. Freeze
Human Genetics Program Sanford Children's Health Research Center Sanford, Burnham Prebys Medical Discovery Institute, La Jolla, CA
Search for more papers by this authorCorresponding Author
Claudia Mandato
Department of Pediatrics, Santobono-Pausilipon Children's Hospital, Naples, Italy
Address correspondence and reprint requests to Claudia Mandato, MD, PhD, Department of Pediatrics, Santobono-Pausilipon Children's Hospital 80129 Naples, Italy (e-mail: [email protected]).Search for more papers by this authorRossella Colantuono,
Elisa D'Acunto,
Daniela Melis,
Pietro Vajro,
Hudson H. Freeze,
Claudia Mandato,
Rossella Colantuono
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorElisa D'Acunto
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorDaniela Melis
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorPietro Vajro
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy
Search for more papers by this authorHudson H. Freeze
Human Genetics Program Sanford Children's Health Research Center Sanford, Burnham Prebys Medical Discovery Institute, La Jolla, CA
Search for more papers by this authorCorresponding Author
Claudia Mandato
Department of Pediatrics, Santobono-Pausilipon Children's Hospital, Naples, Italy
Address correspondence and reprint requests to Claudia Mandato, MD, PhD, Department of Pediatrics, Santobono-Pausilipon Children's Hospital 80129 Naples, Italy (e-mail: [email protected]).Search for more papers by this authorThe authors report no conflicts of interest.
Drs Rossella Colantuono, Elisa D'Acunto, and Claudia Mandato contributed equally to this study.
E. D'Acunto present address: Post-graduate School of Medical Genetics / Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org).
ABSTRACT
An ever-increasing number of disturbances in glycosylation have been described to underlie certain unexplained liver diseases presenting either almost isolated or in a multi-organ context. We aimed to update previous literature screenings which had identified up to 23 forms of congenital disorders of glycosylation (CDG) with associated liver disease. We conducted a comprehensive literature search of three scientific electronic databases looking at articles published during the last 20 years (January 2000–October 2020). Eligible studies were case reports/series reporting liver involvement in CDG patients. Our systematic review led us to point out 41 forms of CDG where the liver is primarily affected (n = 7) or variably involved in a multisystem disease with mandatory neurological abnormalities (n = 34). Herein we summarize individual clinical and laboratory presentation characteristics of these 41 CDG and outline their main presentation and diagnostic cornerstones with the aid of two synoptic tables. Dietary supplementation strategies have hitherto been investigated only in seven of these CDG types with liver disease, with a wide range of results. In conclusion, the systematic review recognized a liver involvement in a somewhat larger number of CDG variants corresponding to about 30% of the total of CDG so far reported, and it is likely that the number may increase further. This information could assist in an earlier correct diagnosis and a possibly proper management of these disorders.
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