Living-Related Liver Transplantation for Metylmalonic Acidemia: Report of One Case

Methylmalonic酸血症患者接受活體肝臓移植：一病例報告

許瑞育(Jui-Yu Hsui) ； 簡穎秀(Yin-Hsiu Chien) ； 朱紹盈(Shao-Yin Chu) ； 呂立(Frank Leigh Lu) ； 陳慧玲(Huey-Ling Chen) ； 何明志(Ming-Je Ho) ； 李伯皇(Po-Huang Lee) ； 胡務亮(Wuh-Liang Hwu)

《Acta Paediatrica Taiwanica》 44卷3期 (2003/06) Pp. 171-173

https://doi.org/10.7097/APT.200306.0171

摘要

Methylmalonic酸血症一種常見的體染色體隱性遺傳之代謝性酸血症，可以簡單區分成維生素B12應型及維生素B12不反應型。截至目前為止，對於維生素B12不反應型的Methylmalonic酸血症仍無有效的治療方式。這群病童的預後一般是相當的差。文獻上會經報告給予Methylmalonic酸血症患者施行肝臓移植手術以改善其代謝情況。本文報告一位患有維生素B12不後應型之Methylmalonic酸血症的女童，在11個月大時接受肝臓移植手術。在移植手術前後我們施行了連續式靜脈血液透析。在術後追蹤的過程中，不但其發生代謝失常的頻率大為降低，而且飲食中蛋白質的量也可以增加。此病童的生長發育也逐漸跟上一般兒童。總結，肝臓移植手術可以有效減輕維生素B12不後應型之Methylmalonic酸血症的臨床症狀。

關鍵字

Methylmalonic酸血症 ； 活體肝臓移植 ； 維生素B12不反應型 ； 連續式靜脈—靜脈血液透析

並列摘要

Methylmalonic acidemia (MMA) is an autosomal recessive disease of branched chain amino acid metabolism. The disease can be classified as vitamin B 12-responsive or nonresponsive type. For the nonresponsive type, there is no curative treatment, and its prognosis is usually poor. Wereport one case that had vitamin B12-nonresponsive type MMA diagnosed at 3 days of age. The patient received liver transplantation at the age of 11 months. Continuous venovenous hemodialysis was performed immediately pre-and post-transplantation. The attack frequency of metabolic acidosis episodes decreased and the general condition of this patient improved after liver transplantation. so, although not curative, liver transplantation is an effective management for MMA.

並列關鍵字

methylmalonic acidemia ； liver transplantation ； vitamin B12-nonresponsive type ； continuous venouenous hemodialysis