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

@article{Koning2004PrenatalAE,
  title={Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency},
  author={TJ de Koning and L. W. Klomp and Acc van Oppen and F A Beemer and Lambertus Dorland and Iet van den Berg and Rudolphus Berger},
  journal={The Lancet},
  year={2004},
  volume={364},
  pages={2221-2222}
}
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112 Citations
Background Citations
43
Methods Citations
2

112 Citations

Citation Type

Citation Type

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
TLDR
The two first unrelated Tunisian families with 3-PGDH deficiency confirmed by biochemical and genetic study are reported on.
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
TLDR
A 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency responded to L-serine and glycine supplementation only.
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges
TLDR
6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity were presented.
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
TLDR
The first two identified cases of phosphoserine aminotransferase deficiency has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid and mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene in both siblings.
On the phenotypic spectrum of serine biosynthesis defects
TLDR
Previous reports of serine biosynthesis defects and mutations in the PHGDH, PSAT1, and PSPH genes are reviewed, the variability in the phenotypes associated with serine Biosynthesis defects are discussed, and the vital roles ofserine and the potential consequences of its deficiency are elaborate.
Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly
  • G. Shapira Zaltsberg, H. McMillan, E. Miller
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2018
TLDR
Although further characterization of MRI findings in other patients is required, microencephaly with simplified gyral pattern could provide imaging clues for this rare metabolic disorder.
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly
TLDR
In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.3 years, but never had seizures.
A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
TLDR
This case expands the phenotypic spectrum of 3-phosphoglycerate dehydrogenase deficiency and should be added to the list of investigations performed in patients with Charcot-Marie-Tooth–like polyneuropathy, especially if it is associated with psychomotor delay and congenital cataracts.
An update on serine deficiency disorders
TLDR
The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.
Two new cases of serine deficiency disorders treated with l-serine.
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References

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Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
TLDR
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