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 increased ammonia levels and accumulating toxic metabolites are associated with life-threatening neurological complications. Repeated and frequent episodes of hyperammonaemia (alongside metabolic decompensations) can result in impaired growth and intellectual disability, the severity of which increase with longer duration of hyperammonaemia. Due to the urgency required, diagnostic evaluation and initial management of patients with suspected OAs should proceed simultaneously. Paediatricians, who do no

SUBMITTER: Haberle J 

PROVIDER: S-EPMC6282273 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature