hyperammonemia

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hyperammonemia

 [hi″per-am″mo-ne´me-ah]
elevated levels of ammonia or its compounds in the blood. A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms are aggravated by protein ingestion. Type 2, due to deficiency of the enzyme carbamoyl phosphate synthetase (ammonia), is marked by vomiting, lethargy, and flaccidity and by elevated plasma and urinary levels of glycine. Hyperammonemia may also occur in nongenetic diseases such as severe liver disease.

am·mo·ne·mi·a

, ammoniemia (am'ō-nē'mē-ă, am'ō-ne-ē'mē-ă),
The presence of ammonia or some of its compounds in the blood, thought to be formed from the decomposition of urea; it usually results in subnormal temperature, weak pulse, gastroenteric symptoms, and coma.
Synonym(s): hyperammonemia
[ammonia + G. haima, blood]

hyperammonemia

Metabolism A heterogeneous group of five largely AR inborn errors of metabolism; each has a defect in a urea cycle enzyme–arginase, argininosuccinase, argininosuccinic acid synthetase, carbamyl phosphate synthetase, ornithine transcarbamylase; all begin in late infancy or childhood, except arginase deficiency, which is neonatal Clinical Accumulation of urea precursors–eg, ammonia, glutamine causes progressive lethargy, hyperthermia, apnea, hyperammonemia Diagnosis may be established in utero by restriction fragment–RFLP analysis Treatment Restrict dietary protein; activate alternate pathways of waste nitrogen excretion–eg, sodium benzoate or dietary supplementation with arginine
References in periodicals archive ?
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 [8].
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.
The Hyperammonaemia 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.