Literature DB >> 29721919

Severe ichthyosis in MPDU1-CDG.

Christian Thiel1, Saskia Wortmann2,3, Korbinian Riedhammer2,4, Bader Alhaddad2,3, Ertan Mayatepek5, Holger Prokisch2,3, Felix Distelmaier6.   

Abstract

Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.

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Year:  2018        PMID： 29721919     DOI： 10.1007/s10545-018-0189-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Authors:  B Schenk; T Imbach; C G Frank; C E Grubenmann; G V Raymond; H Hurvitz; I Korn-Lubetzki; S Revel-Vik; A Raas-Rotschild; A S Luder; J Jaeken; E G Berger; G Matthijs; T Hennet; M Aebi
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

Review 2.  Skin manifestations in CDG.

Authors:  D Rymen; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2014-02-20       Impact factor: 4.982

3.  NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

Authors:  Laura S Kremer; Katharina Danhauser; Diran Herebian; Danijela Petkovic Ramadža; Dorota Piekutowska-Abramczuk; Annette Seibt; Wolfgang Müller-Felber; Tobias B Haack; Rafał Płoski; Klaus Lohmeier; Dominik Schneider; Dirk Klee; Dariusz Rokicki; Ertan Mayatepek; Tim M Strom; Thomas Meitinger; Thomas Klopstock; Ewa Pronicka; Johannes A Mayr; Ivo Baric; Felix Distelmaier; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2016-09-08       Impact factor: 11.025
  3 in total
  2 in total

1.  A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

Authors:  Walinka van Tol; Angel Ashikov; Eckhard Korsch; Nurulamin Abu Bakar; Michèl A Willemsen; Christian Thiel; Dirk J Lefeber
Journal:  JIMD Rep       Date:  2019-09-30

2.  Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Authors:  Katalin Komlosi; Olivier Claris; Sophie Collardeau-Frachon; Julia Kopp; Ingrid Hausser; Juliette Mazereeuw-Hautier; Nathalie Jonca; Andreas D Zimmer; Damien Sanlaville; Judith Fischer
Journal:  Front Genet       Date:  2021-12-08       Impact factor: 4.599
  2 in total

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