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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

Koning, T. J.De LU ; Klomp, L. W.J. ; Oppen, A. C.C.Van ; Beemer, Prof F.A. ; Dorland, L. ; Berg, I. E.T.Van Den and Berger, Prof R. (2004) In Lancet 364(9452). p.2221-2222
Abstract

3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be... (More)

3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.

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author
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publishing date
type
Contribution to journal
publication status
published
subject
in
Lancet
volume
364
issue
9452
pages
2221 - 2222
publisher
Elsevier
external identifiers
  • pmid:15610810
  • scopus:10944270723
ISSN
0140-6736
DOI
10.1016/S0140-6736(04)17596-X
language
English
LU publication?
no
id
8320771d-95bf-42fc-905a-1a3ff56a09ce
date added to LUP
2021-10-18 10:26:54
date last changed
2024-04-06 11:58:07
@article{8320771d-95bf-42fc-905a-1a3ff56a09ce,
  abstract     = {{<p>3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.</p>}},
  author       = {{Koning, T. J.De and Klomp, L. W.J. and Oppen, A. C.C.Van and Beemer, Prof F.A. and Dorland, L. and Berg, I. E.T.Van Den and Berger, Prof R.}},
  issn         = {{0140-6736}},
  language     = {{eng}},
  month        = {{12}},
  number       = {{9452}},
  pages        = {{2221--2222}},
  publisher    = {{Elsevier}},
  series       = {{Lancet}},
  title        = {{Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency}},
  url          = {{http://dx.doi.org/10.1016/S0140-6736(04)17596-X}},
  doi          = {{10.1016/S0140-6736(04)17596-X}},
  volume       = {{364}},
  year         = {{2004}},
}