Document Detail

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
MedLine Citation:
PMID:  20638314     Owner:  NLM     Status:  MEDLINE    
Hydrops fetalis (HF) is characterized by an accumulation of fluid in the extracellular compartments and in body cavities. Non-immune HF (NIHF) is caused by a wide variety of disorders and overall, 20-25% of NIHF remain unexplained. Inborn errors of metabolism, mostly lysosomal storage diseases have been estimated to account for 1-2% of cases, leading to HF by anemia or liver failure. Very few cases of NIHF and Congenital Disorder of Glycosylation (CDG) have been reported. We present here a case of recurrence of HF in a non-related couple in which the diagnosis of CDG type I was suspected at fetal pathological examination then confirmed at the enzymatic and molecular levels, as well as on a characteristic CDG I serum transferrin profile at 30weeks of gestation. We also provide a systematic review of reported cases with CDG type I and NIHF reported thus far. When NIHF remains unexplained despite exhaustive obstetrical screening, analysis of PMM activity in the parents' leucocytes is possible and might be performed easily during pregnancy. The accurate diagnosis is important in terms of counseling during pregnancy or later, in order to allow an early molecular prenatal diagnosis for the following pregnancies.
Nadia Léticée; Bettina Bessières-Grattagliano; Thierry Dupré; Sandrine Vuillaumier-Barrot; Pascale de Lonlay; Ferechté Razavi; Nadia El Khartoufi; Yves Ville; Michel Vekemans; Raymonde Bouvier; Nathalie Seta; Tania Attié-Bitach
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2010-06-22
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  101     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2010 Oct-Nov
Date Detail:
Created Date:  2010-10-05     Completed Date:  2011-01-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  253-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
AP-HP, Hôpital Necker-Enfants Malades, Centre de médecine fœtale et Maternité de Necker-Brune, Paris, France.
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MeSH Terms
Congenital Disorders of Glycosylation / diagnosis
Hydrops Fetalis / diagnosis*,  etiology
Lysosomal Storage Diseases / complications
Phosphotransferases (Phosphomutases) / deficiency*
Reg. No./Substance:
EC 5.4.2.-/Phosphotransferases (Phosphomutases); EC 2, human

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