Pyridoxamine 5’-Phosphate Oxidase Deficiency: A Potentially Treatable Epileptic Encephalopathy

Autor:	Lateefa Almutawea, Ayman Khalil
Rok vydání:	2022
Předmět:	General Medicine
Zdroj:	Journal of the Bahrain Medical Society. 34:52-56
ISSN:	2960-6004 1015-6321
DOI:	10.26715/jbms.34_3_9
Popis:	Pyridoxal phosphate-responsive neonatal epileptic encephalopathy due to pyridoxamine-5-primephosphate 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.
Databáze:	OpenAIRE
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