Millán J L, Whyte M P, Avioli L V, Fishman W H
Clin Chem. 1980 Jun;26(7):840-5.
We used heat inactivation, L-phenylalanine inhibition, and electrophoresis on polyacrylamide gel and cellulose acetate membranes--with and without use of specific antisera against the liver-bone, intestinal, and placental isoenzymes--to distinguish and quantitate the different alkaline phosphatase isoenzymes in sera from 23 adult members of a kindred affected by the adult form of hypophosphatasia. Nine subjects had values for total activity more than two standard deviations below the mean values for age- and sex-matched normal persons. Bone isoenzyme was diminished in all nine, whereas liver isoenzyme was subnormal in only four. Phosphoethanolamine and phosphoserine in the urine of eight hypophosphatasemic individuals correlated inversely with both total and liver alkaline phosphatase activity in their serum, but not with the activity of the bone isoenzyme. Total activity in the serum of adult kindred members correlated best with the circulating liver isoenzyme activity. The findings suggest that altered hepatic metabolism is responsible for the increased urinary excretion of phosphoethanolamine, and perhaps phosphoserine, in hypophosphatasia.
我们采用热灭活、L-苯丙氨酸抑制以及在聚丙烯酰胺凝胶和醋酸纤维素膜上进行电泳（使用和不使用针对肝-骨、肠道和胎盘同工酶的特异性抗血清），来区分和定量来自一个受成人型低磷酸酯酶症影响的家族的23名成年成员血清中的不同碱性磷酸酶同工酶。9名受试者的总活性值比年龄和性别匹配的正常人群平均值低两个标准差以上。所有9名受试者的骨同工酶均减少，而只有4名受试者肝脏同工酶低于正常水平。8名低磷酸酯酶血症患者尿液中的磷酸乙醇胺和磷酸丝氨酸与他们血清中的总碱性磷酸酶活性和肝脏碱性磷酸酶活性呈负相关，但与骨同工酶活性无关。成年家族成员血清中的总活性与循环肝脏同工酶活性相关性最好。这些发现表明，肝脏代谢改变是低磷酸酯酶症中磷酸乙醇胺以及可能还有磷酸丝氨酸尿排泄增加的原因。
