Labrune P, Perignon J L, Rault M, Brunet C, Lutun H, Charpentier C, Saudubray J M, Odievre M
Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
J Pediatr. 1990 Aug;117(2 Pt 1):220-6. doi: 10.1016/s0022-3476(05)80533-5.
Hypermethioninemia and absolute methionine intolerance were observed in three siblings. These patients had several peculiar clinical features comprising failure to thrive, mental and motor retardation, facial dysmorphy with abnormal hair and teeth, and myocardiopathy. Hepatic S-adenosylhomocysteine hydrolase activity was decreased by 80% in the three children. These clinical and biochemical features differ from those of hypermethioninemias previously described, and thus represent a new form of inherited disorder of methionine metabolism. Whether S-adenosylhomocysteine hydrolase deficiency is primary or secondary to an unknown metabolic defect remains to be determined.
在三名兄弟姐妹中观察到高甲硫氨酸血症和绝对甲硫氨酸不耐受。这些患者有几个特殊的临床特征，包括生长发育迟缓、智力和运动发育迟缓、伴有毛发和牙齿异常的面部畸形以及心肌病。这三个孩子的肝脏S-腺苷同型半胱氨酸水解酶活性降低了80%。这些临床和生化特征与先前描述的高甲硫氨酸血症不同，因此代表了一种新的甲硫氨酸代谢遗传性疾病形式。S-腺苷同型半胱氨酸水解酶缺乏是原发性的还是继发于未知的代谢缺陷仍有待确定。
