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1.
Br J Hosp Med (Lond) ; 77(7): 403-8, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27388379
3.
BMJ Case Rep ; 20162016 Jan 20.
Article in English | MEDLINE | ID: mdl-26791129

ABSTRACT

A young woman presented with general malaise in relation to the metabolic condition ornithine transcarbamylase deficiency. Her ammonia level had risen to 229 µmol/L (normal range 0-59 µmol/L). She was treated using her emergency pack of intravenous medicines and made a complete response. We briefly discuss the need to make an urgent diagnosis, the 'mechanism' for checking serum ammonia levels and therapies.


Subject(s)
Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Urea Cycle Disorders, Inborn/diagnosis , Adult , Ammonia/blood , Arginine/therapeutic use , Female , Humans , Ornithine Carbamoyltransferase Deficiency Disease/drug therapy , Phenylbutyrates/therapeutic use , Sodium Benzoate/therapeutic use , Treatment Outcome , Urea Cycle Disorders, Inborn/drug therapy
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