Rose C I, Haines D S
J Clin Invest. 1978 Jan;61(1):163-70. doi: 10.1172/JCI108914.
A 70-yr-old mildly diabetic white male was discovered to have an elevated level of serum free glycerol in the range of 75 mg/dl and to excrete about 13 g of free glycerol in the urine per 24 h. During a 24-h fast the urine glycerol loss increased to 21.5 g per 24 h. Studies carried out in vitro using leukocytes prepared from the patient's blood which were incubated with [14C]glycerol demonstrated an almost complete absence of glycerol oxidation to 14CO2 and of glycerol phosphorylation, in contrast to control studies with leukocytes collected from normal subjects. Homogenates of the patient's leukocytes contained negligible activity of ATP:glycerol phosphotransferase (glycerokinase EC 2.7.1.30) as measured by a direct spectrophotometric method. Marked hyperglycerolemia has thus far been detected in one brother and in one son of the daughter of this patient. This evidence suggests an x-linked recessive inheritance pattern of the trait. There is a high prevalence of diabetes mellitus in this family.
一名70岁的轻度糖尿病白人男性被发现血清游离甘油水平升高，范围在75毫克/分升，且每24小时尿中排泄约13克游离甘油。在24小时禁食期间，尿甘油损失增加到每24小时21.5克。使用从患者血液中制备的白细胞与[14C]甘油一起孵育进行的体外研究表明，与从正常受试者采集的白细胞对照研究相比，甘油几乎完全没有氧化为14CO2，也没有甘油磷酸化。通过直接分光光度法测量，患者白细胞匀浆中ATP：甘油磷酸转移酶（甘油激酶，EC 2.7.1.30）的活性可忽略不计。到目前为止，在该患者女儿的一个兄弟和一个儿子中检测到明显的高甘油血症。这一证据表明该性状为X连锁隐性遗传模式。这个家族中糖尿病的患病率很高。
