Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency

@article{deKoning1998BeneficialEO,
  title={Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency},
  author={Tom J. de Koning and Marinus Dur{\'a}n and Lambertus Dorland and Rob H.J.M. Gooskens and Emile Van Schaftingen and Jaak Jaeken and Nenad Blau and Ruud Berger and Bwee Tien Poll-The},
  journal={Annals of Neurology},
  year={1998},
  volume={44}
}
3‐Phosphoglycerate dehydrogenase (3‐PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L‐Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6… 
View on Wiley
ncbi.nlm.nih.gov
81 Citations
Highly Influential Citations
2
Background Citations
28
Results Citations
5

81 Citations

Citation Type

Citation Type

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
TLDR
The first follow-up data of amino acid therapy in five patients treated for 3–7.5 years is reported, showing a major reduction in seizure frequency and a progress of psychomotor development in one patient, diagnosed early and treated with a high dosage of L-serine.
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
TLDR
Two siblings with juvenile onset of absence seizures and mild developmental delay responded favourably to relatively low dosages of serine supplementation with cessation of seizures, normalisation of their EEG abnormalities and improvement of well-being and behaviour, illustrating that 3-PGDH deficiency can present with mild symptoms and should be considered as a treatable disorder in the differential diagnosis of mild developmentaldelay and seizures.
3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
TLDR
Treatment with oral L‐serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans.
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-PGDH Deficiency, Seizures, and Microcephaly
TLDR
The beneficial effects of oral L-serine and glycine in 2 siblings, aged 7 and 5 years, with 3-PGDH deficiency are reported from University Children’s Hospital, Utrecht, The Netherlands.
Treatment with amino acids in serine deficiency disorders
  • T. Koning
  • Medicine, Biology
    Journal of Inherited Metabolic Disease
  • 2006
TLDR
The current practice of amino acid treatment with L‐serine and glycine in serine deficiency is reviewed and patients with 3‐phosphoglycerate dehydrogenase deficiency to intractable seizures are reviewed.
Two new cases of serine deficiency disorders treated with l-serine.
Case Report of 3-Phosphoglycerate Dehydrogenase Deficiency: A Baby with Severe Microcephaly, Psychomotor Delay, and Seizures
This is a case presentation of a patient with microcephaly, severe developmental delay, and refractory seizures who was found to have low levels of serum serine and glycine. Exome sequencing revealed…
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.
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
TLDR
The data presented in this paper suggest an important role for PHGDH activity and L-serine biosynthesis in the metabolism, development, and function of the central nervous system.
...
...

References

SHOWING 1-10 OF 14 REFERENCES
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
TLDR
Treatment with oral serine in the youngest patient significantly increased cerebrospinal fluid serine and abolished the convulsions, and in fibroblasts of both patients, a decreased activity was demonstrated of 3-phosphoglycerate dehydrogenase, the first step of serine biosynthesis.
Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency
TLDR
The results provide the first evidence for an association between defective S-adenosylmethionine metabolism and demyelination in humans.
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.
A 2-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency developed subacute combined degeneration of the cord and a leuco-encephalopathy which was confirmed at necropsy. Total…
3-methylglutaconic aciduria in pregnancy
Excitatory amino acids as a final common pathway for neurologic disorders.
In many neurologic disorders, injury to neurons may be caused at least in part by overstimulation of receptors for excitatory amino acids, including glutamate and aspartate. These neurologic…
Effects of l-serine on neurons in vitro
Family of neutral and acidic amino acid transporters: molecular biology, physiology and medical implications.
  • Y. Kanai
  • Biology, Chemistry
    Current opinion in cell biology
  • 1997
Glycine receptors: heterogeneous and widespread in the mammalian brain
  • H. Betz
  • Biology
    Trends in Neurosciences
  • 1991
Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection.
Plasma free amino acid values in normal children and adolescents.
...
...