Liver transplantation for a patient with homocystinuria

Pediatric Transplantation
Niang-Cheng LinChin-Su Liu

Abstract

A 24-yr-old man was diagnosed with HCU during neonatal screening and remained on a pyridoxine, vitamin B12, folic acid, and betaine regimen with dietary methionine restriction for more than 10 yr. He had normal mental development, marfanoid appearance, myopia because of lens dislocation, and recurrent ankle subluxation during adolescence. Thereafter, he was a poor adherent to the conventional diet-restrictive therapy, and LT was considered when he developed hypertension and multiple infarctions over the right cerebellum early in the second decade of his life despite taking aspirin as a prophylaxis from 17 yr of age. In November 2009, he received a deceased whole LT from a blood group compatible donor. Along with the success of the transplantation, he was completely disease free without dietary or nutritional control. To the best of our knowledge, this is the first case of LT intended to cure HCU, and with promising results. This case provides an insight into the role of LT for this congenital metabolic disease, for which the decision should be made by judging between the severity of the disease and the risk of the operation, as well as the life quality of the patient.

References

Aug 25, 1983·The New England Journal of Medicine·D E WilckenP A Tyrrell
May 18, 1999·The New England Journal of Medicine·M GaustadnesN Rütiger
Dec 19, 1962·Biochemical and Biophysical Research Communications·T GERRITSENH A WAISMAN
Oct 1, 1962·Archives of Disease in Childhood·N A CARSON, D W NEILL
Mar 27, 1964·Science·S H MUDDL LASTER
Dec 20, 2005·Molecular Genetics and Metabolism·Selma E Snyderman
Jul 4, 2007·Clinics in Liver Disease·Kristine Y ZhangKris V Kowdley
Jun 19, 2010·Pediatric Transplantation·Ronen ArnonUNKNOWN SPLIT Research Group
Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao

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Citations

Jan 15, 2021·American Journal of Medical Genetics. Part a·Stephanie P KerkvlietSusan A Berry

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