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Expanding the Spectrum of PMM2-CDG Phenotype

  • Sandrine Vuillaumier-BarrotEmail author
  • Bertrand Isidor
  • Thierry Dupré
  • Christiane Le Bizec
  • Albert David
  • Nathalie Seta
Case Report
Part of the JIMD Reports book series (JIMD, volume 5)

Abstract

Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG. The classical form is neurologic but severe forms with multisystem disorders and hydrops fetalis have been described. Here, we extend on the opposite end the clinical spectrum to an asymptomatic PMM2-CDG case. The case was the father of a child who died of neonatal galactosemia few days after birth. He presented without any clinical or biological signs, except a typical CDG 1 pattern in Western blot of glycoproteins associated with a deficient phosphomannomutase activity in blood leukocytes and compound heterozygosity in PMM2 gene. The sister of the father, who was also affected by PMM deficiency, presented with infertility and premature ovarian failure. Finally, the absence of any abnormal clinical or biological signs as for the case completes the clinical spectrum of PMM2-CDG at its extreme end, at the opposite of the supposed total lethality of the R141H homozygous status.

Keywords

Premature Ovarian Failure Glycosylation Pattern Secretory Diarrhea Serum Glycoprotein Inverted Nipple 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Sandrine Vuillaumier-Barrot
    • 1
    • 2
    Email author
  • Bertrand Isidor
    • 3
  • Thierry Dupré
    • 1
    • 2
  • Christiane Le Bizec
    • 1
  • Albert David
    • 3
  • Nathalie Seta
    • 1
    • 4
  1. 1.Laboratoire de BiochimieAP-HP, Hôpital Bichat-Claude BernardParis Cedex 18France
  2. 2.INSERM CRB3 U773, Faculté Xavier BichatParisFrance
  3. 3.CHU-Nantes, Service de Génétique MédicaleNantesFrance
  4. 4.Faculté de PharmacieUniversité Paris-DescartesParisFrance

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