The effect of carnitine supplementation in valproate-induced hyperammonaemia
. Acta Paediatr.
Other laboratory workup revealed lactic acidaemia and hyperammonaemia
. Urine organic acid (UOA) analysis showed ketosis.
These are lesions related to encephalopathy and are typical histological findings associated to hyperammonaemia
in different species of animals, consequent to either hepatic disease .
Duan et al., "Hyperammonaemia
induces hepatic injury with alteration of gene expression profiles," Liver International, vol.
An elevated serum ammonia concentration in a patient with HH is suggestive of the hyperinsulinism and hyperammonaemia
(HI/HA) syndrome (34).
People with this mutation also develop a surplus of ammonia - known as hyperammonaemia
- which can equally have serious repercussions on brain function.
In our case, elevated transaminases were present even before she had a hypotension and the pattern of deranged metabolic and synthetic functions of liver seen in our patient in the form of elevated INR and profound hyperammonaemia
, is not typical of ischemic liver injury.
Two generic medicines received a positive opinion from the CHMP: Febuxostat Mylan (febuxostat) for the prevention and treatment of hyperuricaemia and Ucedane (carglumic acid) for the treatment of hyperammonaemia
due to N-acetylglutamate synthase primary deficiency.
The FDA has also approved the use of Ammonul as an adjunctive therapy in paediatric and adult patients to treat acute hyperammonaemia
A targeted exome sequencing of 70 genes associated with disorders of ketogenesis, ketolysis, carbohydrate metabolism, fatty acid oxidation defects, and hyperammonaemia
did not identify any pathogenic mutations.
Knowledge Centre has been developed to raise awareness of this rare yet life-threatening condition.
High-dose 5-fluorouracil infusional therapy is associated with hyperammonaemia
, lactic acidosis and encephalopathy.