Published online Mar 28, 2017. doi: 10.4254/wjh.v9.i9.487
Peer-review started: October 12, 2016
First decision: November 11, 2016
Revised: January 12, 2017
Accepted: February 18, 2017
Article in press: February 20, 2017
Published online: March 28, 2017
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case illustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.
Core tip: Hereditary tyrosinemia type 1 is a metabolic defect resulting in several disease manifestations including life threatening hepatorenal disease, neurologic disease, and rickets. Although neonatal screening for this disorder has allowed early identification and medical treatment with nitisinone, the need for recognition of this disorder in older individuals remains since aggressive intervention, including medical treatment and possible liver transplantation, may be lifesaving and have profound effects on morbidity and mortality.