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Expanding the clinical spectrum of 3‐phosphoglycerate dehydrogenase deficiency
Author(s) -
Tabatabaie L.,
Klomp L. W. J.,
RubioGozalbo M. E.,
Spaapen L. J. M.,
Haagen A. A. M.,
Dorland L.,
Koning T. J.
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9249-5
Subject(s) - microcephaly , pediatrics , medicine , epilepsy , psychomotor retardation , psychomotor learning , differential diagnosis , serine , endocrinology , pathology , biology , biochemistry , enzyme , cognition , psychiatry , alternative medicine
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.