title: Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature review.
abstract: The urea cycle is the final pathway for nitrogen metabolism. Urea cycle disorders (UCDs) include a variety of genetic defects, which lead to inefficient urea synthesis. Elevated blood ammonium level is usually dominant in the clinical pattern and the primary manifestations affect the central nervous system. Herein, we report the case of a 17-year-old girl who was diagnosed with UCD at the age of 3. Despite a controlled diet, she was hospitalized several times for acute attacks with recurrent life risk. She came to our attention for a hyperammonemic episode. We proposed an orthotopic liver transplant (OLT) as a treatment; the patient and her family were in complete agreement. On February 28, 2007, she successfully received a transplant. Following the surgery, she has remained well, and she is currently leading a normal life. Usually for UCDs diet plays the primary therapeutic role, while OLT is often considered as a last resort. Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment.
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Francesco Giuseppe
authors: FG
authors: Foschi
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Maria Cristina
authors: MC
authors: Morelli
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Sara
authors: S
authors: Savini
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Anna Chiara
authors: AC
authors: Dall'Aglio
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Arianna
authors: A
authors: Lanzi
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Matteo
authors: M
authors: Cescon
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Giorgio
authors: G
authors: Ercolani
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Alessandro
authors: A
authors: Cucchetti
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Antonio Daniele
authors: AD
authors: Pinna
authors: Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall'Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy.
authors: Giuseppe Francesco
authors: GF
authors: Stefanini
mesh_terms: D000293:Adolescent; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy / Q000601:surgery*; D018753:Diet, Protein-Restricted; D018450:Disease Progression; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D016031:Liver Transplantation; D011788:Quality of Life; D016896:Treatment Outcome
keywords: Diet; Hyperammonemia; Liver transplantation; Quality of life; Urea cycle disorders