Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L. & de Koning, T. J., Feb-2011, In : Journal of Inherited Metabolic Disease. 34, 1, p. 181-184 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • L Tabatabaie
  • L W J Klomp
  • M E Rubio-Gozalbo
  • L J M Spaapen
  • A A M Haagen
  • L Dorland
  • T J de Koning

UNLABELLED: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form. Both patients 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. These cases illustrate that 3-PGDH deficiency can present with mild symptoms and should be considered as a treatable disorder in the differential diagnosis of mild developmental delay and seizures.

SYNOPSIS: we present a novel mild phenotype in patients with 3-PGDH deficiency.

Original languageEnglish
Pages (from-to)181-184
Number of pages4
JournalJournal of Inherited Metabolic Disease
Issue number1
Publication statusPublished - Feb-2011


  • Adolescent, Brain Diseases, Metabolic, Inborn, Diagnosis, Differential, Female, Humans, Intellectual Disability, Male, Microcephaly, Phosphoglycerate Dehydrogenase, Seizures, Siblings, Case Reports, Journal Article, Research Support, N.I.H., Extramural

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