Treatment with amino acids in serine deficiency disorders

@article{Koning2006TreatmentWA,
  title={Treatment with amino acids in serine deficiency disorders},
  author={T. Koning},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29}
}
  • T. Koning
  • Published 2006
  • Biology
  • Journal of Inherited Metabolic Disease
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L‐serine. At present two disorders have been reported: 3‐phosphoglycerate dehydrogenase deficiency and 3‐phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3‐phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to… Expand
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
TLDR
This review will discuss the cellular functions of the L-serine pathway, structure and enzymatic properties of the enzymes involved and genetic defects associated with this pathway. Expand
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. Expand
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TLDR
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Glutamine Supplementation in Glutamine Synthetase Deficiency
TLDR
This chapter mainly describes the therapeutic intervention in a patient with an inherited defect of GS who well tolerated a four week trial with enteral or parenteral l-glutamine resulting in a complete correction of the systemic glutamine deficiency and in a partial Correction of the lack of glutamine in the brain. Expand
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Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acidExpand
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
TLDR
These findings expand the understanding of NLS as a disorder of the L-serine biosynthesis pathway and suggest that NLS represents the severe end of serine-deficiency disorders, demonstrating that certain complex syndromes characterized by early lethality could indeed be the extreme end of the phenotypic spectrum of already known disorders. Expand
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. Expand
Dietary and pharmacological induction of serine synthesis genes
TLDR
It is uncovered that low protein and ketogenic diets increase the expression of serine synthesis genes in the liver and the brain relative to control diets. Expand
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References

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TLDR
Congenital microcephaly, seizures and severe psychomotor retardation are symptoms of serine deficiency and can be treated with supplementation of L-serine, sometimes combined with glycine. Expand
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. Expand
Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency
TLDR
It is concluded that 3‐PGDH can be treated effectively by a combination of L‐serine and glycine, and addition of glycine resulted in complete disappearance of seizures. Expand
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. Expand
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. Expand
Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings.
TLDR
It is demonstrated that congenital microcephaly, intractable seizures, and dysmyelinisation are not invariably present in patients with 3-phosphoglycerate dehydrogenase deficiency and an adverse effect of high-dose serine therapy on head growth and on the transport of neutral amino acids across the blood-brain barrier should be considered and requires adjustment of treatment. Expand
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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. Expand
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
TLDR
Pregnant diagnosis of an affected fetus with 3-PGDH deficiency is reported, and the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. Expand
Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
TLDR
Oral serine normalised the plasma and CSF levels of this amino acid and seemed to have some clinical effect, suggesting that the elastin gene and the phosphoserine phosphatase gene might be closely linked. Expand
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
TLDR
Serine biosynthesis defects have to be considered in the differential diagnosis of patients with mental retardation, microcephaly, seizures, and on MRI hypomyelination and white matter attenuation. Expand
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