Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness in patients with underlying metabolic disorders.
A 19-year-old woman presented at 14 weeks of gestation with an alanine transaminase of 2,252 international units/L (less than 30), an international normalized ratio of 6.9 (0.9–1.2), and an ammonia of 58 micromole/L (11–51 micromole/L). No cause was identified on routine investigations including liver biopsy. Biochemical and clinical deterioration prompted investigation for a metabolic disorder. Urinary orotic acid was elevated, consistent with the urea cycle disorder type 1 citrullinemia. Appropriate management (arginine supplementation and dietary protein restriction) led to rapid improvement and later delivery of a healthy neonate.
This is an unusual presentation that reminds us of the importance of considering metabolic disorders during the catabolic stress of pregnancy.
It is important to consider metabolic disorders in pregnancy when usual investigations fail to reach a diagnosis.
Liver Transplant Unit Victoria, Austin Health, Heidelberg, Victoria, Australia.
Corresponding author: Marie Sinclair, MBBS, BMedSci, Liver Transplant Unit Victoria, 145 Studley Road, Heidelberg, Victoria, Australia; e-mail: firstname.lastname@example.org.
Financial Disclosure The authors did not report any potential conflicts of interest.