Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
| Autor: | Acc van Oppen, L. Dorland, Frits A. Beemer, Ruud Berger, Iet van den Berg, T. J. de Koning, L. W. J. Klomp |
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| Rok vydání: | 2004 |
| Předmět: |
medicine.medical_specialty
Pediatrics Microcephaly Chorionic villus sampling Prenatal diagnosis Ultrasonography Prenatal Pregnancy Internal medicine Intellectual Disability Prenatal Diagnosis medicine Serine Humans Fetal head Amino Acid Metabolism Inborn Errors Phosphoglycerate Dehydrogenase Psychomotor learning Fetus Fetal Therapies medicine.diagnostic_test business.industry Infant Newborn Brain General Medicine medicine.disease Endocrinology Chorionic Villi Sampling Gestation Carbohydrate Dehydrogenases Female business |
| Zdroj: | Lancet (London, England). 364(9452) |
| ISSN: | 1474-547X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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