Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
Autor: | L. J. M. Spaapen, A. A. M. Haagen, T. J. de Koning, L. Tabatabaie, Leo W. J. Klomp, Lambertus Dorland, M. E. Rubio-Gozalbo |
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Přispěvatelé: | Kindergeneeskunde, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, Genetica & Celbiologie |
Jazyk: | angličtina |
Rok vydání: | 2011 |
Předmět: |
Male
medicine.medical_specialty Microcephaly Neurology Adolescent Case Reports Biology Research Support Gastroenterology N.I.H Serine Diagnosis Differential Research Support N.I.H. Extramural Seizures Internal medicine Intellectual Disability Diagnosis Genetics medicine Journal Article Humans Genetics(clinical) Phosphoglycerate dehydrogenase Genetics (clinical) Phosphoglycerate Dehydrogenase Brain Diseases Siblings Brain Diseases Metabolic Inborn Extramural medicine.disease Absence seizure Ethosuximide Inborn Differential Original Article Female Metabolic Differential diagnosis Spastic quadriplegia medicine.drug |
Zdroj: | Journal of Inherited Metabolic Disease, 34(1), 181-184. Wiley Journal of Inherited Metabolic Disease, 34(1), 181-184. SPRINGER Journal of Inherited Metabolic Disease |
ISSN: | 0141-8955 |
Popis: | 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. |
Databáze: | OpenAIRE |
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