Hyperammonaemic encephalopathy in a teenage girl

Magalhães, Tiago; Campos, Teresa; Rodrigues, Esmeralda; Vasconcelos, Carla; Fontoura, Manuel; Vilarinho, Laura; Leão‐Teles, Elisa

http://hdl.handle.net/10400.18/8535

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J Paediatrics Child Health - 2021 - Magalh es - Hyperammonaemic encephalopathy in a teenage girl.pdf		97.49 KB	Adobe PDF	Download

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Abstract(s)

Key Points: - Blood ammonia levels should be measured in every encephalopathy of unknown origin, especially when an intoxication cause is thought; - Late-onset inherited metabolic disorders may only manifest in the presence of triggering environmental factors such as some drugs (e.g. anti-epileptics); an undiagnosed metabolic disorder should be considered in such cases.