甲基丙二酸血症

Methylmalonic acidemia.

作者信息

Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y

出版信息

Eur J Pediatr. 1978 Jul 3;128(3):181-6. doi: 10.1007/BF00444303.

DOI:10.1007/BF00444303

PMID:27367

Abstract

A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration. The patient showed favorable growth and development when kept on a low isoleucine, methionine, threonine and valine diet. In vitro studies using a lymphoid cell line derived from the patient showed a deficiency of methylmalonyl-CoA carbonyl-mutase.

摘要

本文描述了一名患有严重代谢性酸中毒并伴有高甘氨酸血症、高尿酸血症、低血糖症和高氨血症的患者。发现代谢性酸中毒是由甲基丙二酸积累所致，补充维生素B12后无反应。该患者在低异亮氨酸、蛋氨酸、苏氨酸和缬氨酸饮食下生长发育良好。对源自该患者的淋巴细胞系进行的体外研究显示甲基丙二酰辅酶A羰基变位酶缺乏。

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