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

1 Dec 2018

Abstract excerpt

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 increased ammonia levels and accumulating toxic metabolites are associated with life-threatening neurological complications....

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PMID: 30522498
DOI: 10.1186/s13023-018-0963-7

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