Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Porri, S; Fluss, J; Plecko, B; Paschke, E; Korff, CM; Kern, I.
Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5 '-Phosphate Oxidase Deficiency: A Case Report
NEUROPEDIATRICS. 2014; 45(1): 64-68.
Doi: 10.1055/s-0033-1353489
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
- Plecko Barbara
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- Abstract:
- Pyridoxal-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive, vitamin-responsive metabolic disorder causing refractory neonatal seizures that respond to the administration of pyridoxal-5'-phosphate (PLP). There are currently few case studies that have documented the functional outcome in PNPO deficiency, which remains poor in the majority of cases. We present the case of a male infant born at 35 weeks gestation who promptly responded to oral administration of PLP, following resistance to common anticonvulsive therapy and to a pyridoxine trial. Neurological outcome at 21 months is favorable and illustrates the importance of standardized vitamin trials in the acute setting of "therapy-resistant" neonatal seizures. Early recognition of PNPO deficiency and appropriate intervention might be associated with a more favorable outcome than initially considered. Georg Thieme Verlag KG Stuttgart · New York.
- Find related publications in this database (using NLM MeSH Indexing)
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- Infant, Premature -
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- Seizures - diagnosis
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