Journal of Inherited Metabolic Disease

, Volume 25, Issue 2, pp 119–125 | Cite as

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

  • T. J. De Koning
  • M. Duran
  • L. Van Maldergem
  • M. Pineda
  • L. Dorland
  • R. Gooskens
  • J. Jaeken
  • B. T. Poll-The
Article

Abstract

Congenital microcephaly, intractable seizures and severe psycho-motor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3–7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.

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Copyright information

© Kluwer Academic Publishers 2002

Authors and Affiliations

  • T. J. De Koning
    • 1
    • 2
  • M. Duran
    • 1
  • L. Van Maldergem
    • 3
  • M. Pineda
    • 4
  • L. Dorland
    • 1
  • R. Gooskens
    • 5
  • J. Jaeken
    • 6
  • B. T. Poll-The
    • 1
    • 7
  1. 1.Department of Metabolic DiseasesUniversity Medical CenterUtrechtThe Netherlands
  2. 2.Department of Pediatric Metabolic DiseasesUniversity Medical Centre UtrechtUtrechtThe Netherlands
  3. 3.Centre de Génétique HumaineInstitut de Pathologie et de GénétiqueLovervalBelgium
  4. 4.Department of Child NeurologyHospital Saint Joan de DeuBarcelonaSpain
  5. 5.Department of Child NeurologyUniversity Medical Center UtrechtThe Netherlands
  6. 6.Laboratory for Genetic Metabolic DiseasesAcademic Medical CentreAmsterdamThe Netherlands
  7. 7.Department of Child Neurology, Emma Children's HospitalAcademic Medical CentreAmsterdamThe Netherlands

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