甲羟戊酸血症：日本首例病例。

Mevalonic acidemia: first case of Japan.

作者信息

Okamoto N, Nakayama M, Narahara C, Kim H, Fujioka M, Imada I, Arai T, Toda S

机构信息

Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 590-02, Japan.

出版信息

Jpn J Hum Genet. 1997 Sep;42(3):441-4. doi: 10.1007/BF02766946.

DOI:10.1007/BF02766946

PMID:12503192

Abstract

Mevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS.

摘要

甲羟戊酸血症是一种罕见的代谢紊乱疾病，由甲羟戊酸激酶缺乏引起，影响胆固醇和非甾醇类异戊二烯的生物合成。我们报告了日本首例病例。临床病程的特征为宫内生长迟缓、出生后生长发育不良、顽固性腹泻、肝功能障碍以及在3个月大时死亡。观察到包括三角脸、前额突出、眼距过宽、低位耳和小颌畸形等畸形特征。通过气相色谱/质谱法检测到甲羟戊酸水平升高。