Literature DB >> 18813948

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Peter Schadewaldt1, Hans-Werner Hammen, Loganathan Kamalanathan, Udo Wendel, Martin Schwarz, Annet M Bosch, Nele Guion, Mirian Janssen, Godfried H J Boers.   

Abstract

Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22-38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and good dietary compliance. Three of the patients performed breast feeding of their newborns. Monitoring parameters were galactose-1-phosphate and galactitol concentrations in erythrocytes and urinary excretion of galactose, galactitol, galactonate, and lactose. During pregnancy, a small but steady increase of renal metabolite excretion rates was observed. After delivery, a moderate transient increase of metabolite concentrations with peak values within the first week post partum occurred, irrespective of breast feeding. Altogether, there was no evidence for clinically or subclinically significant changes of metabolic control during pregnancy, delivery, or lactation. In conclusion, a specific metabolic monitoring is apparently not required in pregnant galactosemic women, and breast feeding of the nongalactosemic offspring can be recommended.

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Year:  2008        PMID: 18813948     DOI: 10.1007/s00431-008-0832-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  25 in total

1.  Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.

Authors:  P Briones; M Girós; V Martinez
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

2.  Normal pregnancy and childbirth in a galactosemic woman.

Authors:  T A Tedesco; G Morrow; W J Mellman
Journal:  J Pediatr       Date:  1972-12       Impact factor: 4.406

3.  Childbearing by a galactosemic woman.

Authors:  T F Roe; J G Hallatt; G N Donnell; W G Ng
Journal:  J Pediatr       Date:  1971-06       Impact factor: 4.406

Review 4.  Galactosaemia.

Authors:  I B Sardharwalla; J E Wraith
Journal:  Nutr Health       Date:  1987

5.  Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.

Authors:  P Schadewaldt; S Killius; L Kamalanathan; H W Hammen; K Strassburger; U Wendel
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

6.  Metabolism of circulating disaccharides in man and the rat.

Authors:  E Weser; M H Sleisenger
Journal:  J Clin Invest       Date:  1967-04       Impact factor: 14.808

7.  Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Authors:  Fernanda R O Calderon; Amit R Phansalkar; David K Crockett; Martin Miller; Rong Mao
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

8.  Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Authors:  W G Ng; Y K Xu; L J Wong; F R Kaufman; N R M Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

9.  Galactonate determination in urine by stable isotope dilution gas chromatography-mass spectrometry.

Authors:  Peter Schadewaldt; Hans-Werner Hammen; Sara Stolpmann; Loganathan Kamalanathan; Udo Wendel
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2004-03-05       Impact factor: 3.205

10.  Human leukocyte and plasma beta-D-fucosidase: identity with beta-D-galactosidase.

Authors:  W R Den Tandt
Journal:  Biochem Med Metab Biol       Date:  1987-12
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  5 in total

Review 1.  Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

Authors:  Mili Thakur; Gerald Feldman; Elizabeth E Puscheck
Journal:  J Assist Reprod Genet       Date:  2017-09-20       Impact factor: 3.412

Review 2.  Galactose toxicity in animals.

Authors:  Kent Lai; Louis J Elsas; Klaas J Wierenga
Journal:  IUBMB Life       Date:  2009-11       Impact factor: 3.885

Review 3.  Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).

Authors:  Antonio La Marca; Elisa Mastellari
Journal:  J Assist Reprod Genet       Date:  2021-01-25       Impact factor: 3.412

Review 4.  Ovarian function in girls and women with GALT-deficiency galactosemia.

Authors:  Judith L Fridovich-Keil; Cynthia S Gubbels; Jessica B Spencer; Rebecca D Sanders; Jolande A Land; Estela Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

Review 5.  Fertility preservation in female classic galactosemia patients.

Authors:  Britt van Erven; Cynthia S Gubbels; Ron J van Golde; Gerard A Dunselman; Josien G Derhaag; Guido de Wert; Joep P Geraedts; Annet M Bosch; Eileen P Treacy; Corrine K Welt; Gerard T Berry; M Estela Rubio-Gozalbo
Journal:  Orphanet J Rare Dis       Date:  2013-07-16       Impact factor: 4.123

  5 in total

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