Login / Signup

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

Johannes HäberleAnupam ChakrapaniNicholas Ah MewNicola Longo
Published in: Orphanet journal of rare diseases (2018)
Our understanding of optimal treatment strategies for organic acidaemias is still evolving. Timely diagnosis is essential and best achieved by the early identification of hyperammonaemia and metabolic acidosis. Correcting metabolic imbalance and hyperammonaemia are critical to prevent brain damage in affected patients.
Keyphrases