Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.

Abstract

MSUD is a hereditary metabolic disorder that is characterized by impaired activity of the BCKADC. Liver transplantation has been approved as a treatment for some MSUD cases in which the control of BCAAs is insufficient. Although there have been several reports about DDLT for MSUD, few LDLT cases have been reported. Because either of parents who are heterozygote of this disease usually applies to be a candidate of donor in LDLT, the impairment of BCKADC activity of graft liver should be concerned. We performed LDLT for 10 month-old girl with a left lateral segment graft from her father. BCKADC activities of the patient and her parents were measured using lysates of lymphocytes isolated from peripheral blood specimen before the transplant. As a consequence, the activity of BCKADC of father was not inferior to a normal range. The patient tolerated the operation well. Postoperative course was uneventful and mixed milk was started at 8th POD. The serum BCAAs levels have remained within normal range. It should be necessary to follow the physical growth and mental development of the recipient in the future.

• Authors: Masashi Kadohisa, Shirou Matsumoto, Hirotake Sawada, Masaki Honda, Takahiro Murokawa, Shintaro Hayashida, Yuki Ohya, Kwang-Jong Lee, Hidekazu Yamamoto, Hiroshi Mitsubuchi, Fumio Endo, Yukihiro Inomata
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 19 Issue 3 Pg. E66-9 (May 2015) ISSN: 1399-3046 [Electronic] Denmark
• PMID: 25708273 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Chemical References

• Amino Acids, Branched-Chain

Topics

• Amino Acids, Branched-Chain (metabolism)
• Fathers
• Female
• Heterozygote
• Humans
• Infant
• Liver Transplantation (methods)
• Living Donors
• Male
• Maple Syrup Urine Disease (genetics, surgery)
• Postoperative Period
• Treatment Outcome