Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
(2011) In Journal of Inherited Metabolic Disease 34(1). p.181-184- Abstract
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... (More)
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.
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- author
- Tabatabaie, L. ; Klomp, L. W.J. ; Rubio-Gozalbo, M. E. ; Spaapen, L. J.M. ; Haagen, A. A.M. ; Dorland, L. and De Koning, T. J. LU
- publishing date
- 2011-02-01
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Inherited Metabolic Disease
- volume
- 34
- issue
- 1
- pages
- 4 pages
- publisher
- Springer
- external identifiers
-
- scopus:79955821436
- pmid:21113737
- ISSN
- 0141-8955
- DOI
- 10.1007/s10545-010-9249-5
- language
- English
- LU publication?
- no
- id
- dcbd2f45-e7cd-41c6-8bc0-a303dcb10b56
- date added to LUP
- 2020-02-26 10:20:39
- date last changed
- 2024-03-20 06:31:22
@article{dcbd2f45-e7cd-41c6-8bc0-a303dcb10b56,
abstract = {{<p>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.</p>}},
author = {{Tabatabaie, L. and Klomp, L. W.J. and Rubio-Gozalbo, M. E. and Spaapen, L. J.M. and Haagen, A. A.M. and Dorland, L. and De Koning, T. J.}},
issn = {{0141-8955}},
language = {{eng}},
month = {{02}},
number = {{1}},
pages = {{181--184}},
publisher = {{Springer}},
series = {{Journal of Inherited Metabolic Disease}},
title = {{Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency}},
url = {{http://dx.doi.org/10.1007/s10545-010-9249-5}},
doi = {{10.1007/s10545-010-9249-5}},
volume = {{34}},
year = {{2011}},
}