Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Abstract Background The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied by severe hyperammonaemia and constitutes a metabolic emergency, as incr...

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Bibliographic Details
Main Authors: Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, Nicola Longo
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Metabolic acidosis
Hyperammonaemia
Organic acidaemias
Metabolic decompensation
Biochemical pathogenesis
Online Access:http://link.springer.com/article/10.1186/s13023-018-0963-7

Internet

http://link.springer.com/article/10.1186/s13023-018-0963-7

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