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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Resumo(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.

Descrição

Case Reports

Palavras-chave

Hyperammonaemic Encephalopathy Brain Diseases Diagnosis Neurotoxicity Syndromes Anticonvulsants Adolescent Female Doenças Genéticas

URI

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

Citação

J Paediatr Child Health . 2022 Jul;58(7):1270-1271. doi: 10.1111/jpc.15824. Epub 2021 Nov 2. Case Reports

Editora

Wiley

DOI

10.1111/jpc.15824

Coleções

DGH - Artigos em revistas internacionais

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