Bonham J R, Stephenson T J, Carpenter K H, Rattenbury J M, Cromby C H, Pollitt R J, Hull D
Department of Chemical Pathology, Children's Hospital, Sheffield, United Kingdom.
Pediatr Res. 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009.
A family comprising mother, father, and five children is described. Four of the children were found to excrete massive amounts of D(+)-glyceric acid in their urine. This was verified by gas chromatography-mass spectrometry and the configuration determined by capillary gas chromatography of O-acetylated menthyl esters. The excretion ranged from 10.8 to 19.9 mmol/24 h. The remaining child and the parents showed no evidence of this unusual metabolite. The virtual absence of clinical manifestations in this family was particularly interesting. Only two of the children showed any clinical abnormality and this was limited to mild microcephaly and speech delay; the other two children found to excrete large amounts of D(+)-glycerate were healthy and developmentally normal at 7 y and 9 y of age. There was a marked increase in the excretion rate of D(+)-glycerate in response to both oral fructose and serine loading. These results are consistent with a deficiency of D(+)-glycerate kinase and indicate the potentially benign nature of this disorder.
描述了一个由母亲、父亲和五个孩子组成的家庭。发现其中四个孩子尿液中排泄大量D(+)-甘油酸。这通过气相色谱-质谱法得到证实，并通过O-乙酰化薄荷酯的毛细管气相色谱法确定构型。排泄量范围为10.8至19.9 mmol/24小时。其余孩子和父母未显示出这种异常代谢物的迹象。这个家庭几乎没有临床表现特别令人感兴趣。只有两个孩子有任何临床异常，且仅限于轻度小头畸形和语言发育迟缓；另外两个被发现排泄大量D(+)-甘油酸的孩子在7岁和9岁时健康且发育正常。口服果糖和丝氨酸负荷后，D(+)-甘油酸的排泄率显著增加。这些结果与D(+)-甘油酸激酶缺乏一致，并表明这种疾病可能具有良性性质。
