Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

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• 作者：George V. Mazariegos ; MD^&lowast ; ; ¹ ; ^{george.mazariegos@chp.edu} ; D. Holmes Morton ; MD² ; Rakesh Sindhi ; MD¹ ; Kyle Soltys ; MD¹ ; Navdeep Nayyar ; MD¹ ; Geoffrey Bond ; MD¹ ; Diana Shellmer ; PhD⁵ ; Benjamin Shneider ; MD⁵ ; Jerry Vockley ; MD⁶ ; Kevin A. Strauss ; MD^&lowast ; ; ² ; ³ ; ⁴
• 关键词：BCAA ; Branched-chain amino acid ; BCKDH ; Branched-chain ketoacid dehydrogenase complex ; MSUD ; Maple syrup urine disease ; UNOS ; United Network for Organ Sharing
• 刊名：The Journal of Pediatrics
• 出版年：2012
• 出版时间：January, 2012
• 年：2012
• 卷：160
• 期：1
• 页码：116-121.e1
• 全文大小：490 K

文摘

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Objective

To assess clinical and neurocognitive function in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD).

Study design

A total of 35 patients with classical MSUD (age 9.9 ¡À 7.9 years) underwent liver transplantation between 2004 and 2009. Six patients donated their liver to recipients without MSUD (¡°domino¡± transplant). We analyzed clinical outcomes for our cohort and 17 additional cases from the national United Network for Organ Sharing registry; 33 patients completed IQ and adaptive testing before transplantation, and 14 completed testing 1 year later.

Results

Patient and graft survival were 100 % at 4.5 ¡À 2.2 years of follow-up. Liver function was normal in all patients. Branched-chain amino acid levels were corrected within hours after surgery and remained stable, with leucine tolerance increasing more than 10-fold. All domino transplant recipients were alive and well with normal branched-chain amino acid homeostasis at the time of this report. Patient and graft survival for all 54 patients with MSUD undergoing liver transplantation in the United States during this period were 98 % and 96 % , respectively. One-third of our patients were mentally impaired (IQ ¡Ü 70) before transplantation, with no statistically significant change 1 year later.

Conclusion

Liver transplantation is an effective long-term treatment for classical MSUD and may arrest brain damage, but will not reverse it.