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Journal of Inherited Metabolic Disease

, Volume 41, Issue 6, pp 1293–1294 | Cite as

Severe ichthyosis in MPDU1-CDG

  • Christian Thiel
  • Saskia Wortmann
  • Korbinian Riedhammer
  • Bader Alhaddad
  • Ertan Mayatepek
  • Holger Prokisch
  • Felix DistelmaierEmail author
Images in Metabolic Medicine

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.

Notes

Compliance with ethical standards

Conflict of interest

C. Thiel, S. Wortmann, K. Riedhammer, B. Alhaddad, E. Mayatepek, H. Prokisch and F. Distelmaier declare that they have no conflict of interest.

Supplementary material

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ESM 1

(GIF 261 kb)

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High resolution image (TIF 2028 kb)
10545_2018_189_MOESM2_ESM.docx (25 kb)
ESM 2 (DOCX 24 kb)

References

  1. Kremer LS, Danhauser K, Herebian D et al (2016) NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am J Hum Genet 99:894–902CrossRefPubMedCentralGoogle Scholar
  2. Rymen D, Jaeken J (2014) Skin manifestations in CDG. J Inherit Metab Dis 37:699–708CrossRefGoogle Scholar
  3. Schenk B, Imbach T, Frank CG et al (2001) MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest 108:1687–1695CrossRefPubMedCentralGoogle Scholar

Copyright information

© SSIEM 2018

Authors and Affiliations

  • Christian Thiel
    • 1
  • Saskia Wortmann
    • 2
    • 3
  • Korbinian Riedhammer
    • 2
    • 4
  • Bader Alhaddad
    • 2
    • 3
  • Ertan Mayatepek
    • 5
  • Holger Prokisch
    • 2
    • 3
  • Felix Distelmaier
    • 5
    Email author
  1. 1.Center for Child and Adolescent Medicine, Pediatrics IUniversity of HeidelbergHeidelbergGermany
  2. 2.Institute of Human Genetics, Klinikum rechts der IsarTechnical University of MunichMunichGermany
  3. 3.Institute of Human GeneticsHelmholtz Zentrum MünchenNeuherbergGermany
  4. 4.Department of Nephrology, Klinikum rechts der IsarTechnical University of MunichMunichGermany
  5. 5.Department of General Pediatrics, Neonatology and Pediatric CardiologyUniversity Children’s Hospital Duesseldorf, Medical Faculty, Heinrich Heine UniversityDüsseldorfGermany

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