Pyridoxamine 5’-phosphate oxidase deficiency : a potentially treatable epileptic encephalopathy
Joint Authors
al-Mutawi, Latifah
Khalil, Ayman
Source
Journal of the Bahrain Medical Society
Issue
Vol. 34, Issue 3 (30 Sep. 2022), pp.52-56, 5 p.
Publisher
Publication Date
2022-09-30
Country of Publication
Bahrain
No. of Pages
5
Main Subjects
Abstract EN
Pyridoxal phosphate-responsive neonatal epileptic encephalopathy due to pyridoxamine-5-prime-phosphate oxidase deficiency is a rare cause of epileptic encephalopathy.
a neonate with this condition presents early in life with refractory seizures which does not respond to conventional anti-epileptic medications, depressed level of consciousness, and severe psychomotor retardation if left untreated.
early initiation of active cofactor pyridoxal-5’-phophate can be curative.
we are describing a rare neurometabolic condition; the first case in the kingdom of bahrain to the best of our knowledge.
American Psychological Association (APA)
al-Mutawi, Latifah& Khalil, Ayman. 2022. Pyridoxamine 5’-phosphate oxidase deficiency : a potentially treatable epileptic encephalopathy. Journal of the Bahrain Medical Society،Vol. 34, no. 3, pp.52-56.
https://search.emarefa.net/detail/BIM-1499955
Modern Language Association (MLA)
al-Mutawi, Latifah& Khalil, Ayman. Pyridoxamine 5’-phosphate oxidase deficiency : a potentially treatable epileptic encephalopathy. Journal of the Bahrain Medical Society Vol. 34, no. 3 (2022), pp.52-56.
https://search.emarefa.net/detail/BIM-1499955
American Medical Association (AMA)
al-Mutawi, Latifah& Khalil, Ayman. Pyridoxamine 5’-phosphate oxidase deficiency : a potentially treatable epileptic encephalopathy. Journal of the Bahrain Medical Society. 2022. Vol. 34, no. 3, pp.52-56.
https://search.emarefa.net/detail/BIM-1499955
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 56
Record ID
BIM-1499955