Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Tabatabaie L
PROVIDER: S-EPMC3026672 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Publications
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Tabatabaie L L Klomp L W J LW Rubio-Gozalbo M E ME Spaapen L J M LJ Haagen A A M AA Dorland L L de Koning T J TJ
Journal of inherited metabolic disease 20101127 1
<h4>Unlabelled</h4>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 infanti ...[more]
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