Chesney R W, Kaplan B S, Colle E, Scriver C R, McInnes R R, Dupont C H, Drummond K N
Pediatr Res. 1980 Mar;14(3):209-15. doi: 10.1203/00006450-198003000-00006.
Various metabolic studies were performed in a patient with the idiopathic Fanconi syndrome in whom constant ketonuria suggested that organic acidemia might contribute to the metabolic acidosis. Glucose intolerance with a diminished insulin release was found after PO or IV glucose loads and after glucagon administratio. An insulinopenic "diabetes-like" state has not previously been described in such patients. The patient had impaired galactose-glucose interconversion, elevated blood lactate levels, reduced pyruvate levels, and an increased lactate:pyruvate ratio. Hepatomegaly and hypoglycemia were not present, and liver and muscle biopsies revealed no enzymatic evidence of glycogenosis. The erythrocyte UDP galactose transferase activity was normal. The patient failed to convert fructose to glucose and had a rise in blood lactate after ethanol administration. Further studies revealed no production of glucose after alanine or glycerol administraion, each test being associated with elevated blood lactate levels and, after alanine, an increased lactate:pyruvate ratio. The lactate:pyruvate ratio was elevated after glucagon administration with increased lactate and reduced pyruvate concentrations.
对一名患有特发性范科尼综合征的患者进行了多项代谢研究，该患者持续出现酮尿症，提示有机酸血症可能是代谢性酸中毒的原因之一。口服或静脉注射葡萄糖负荷后以及注射胰高血糖素后，发现患者存在葡萄糖不耐受且胰岛素释放减少。此前尚未在这类患者中描述过胰岛素缺乏的“糖尿病样”状态。该患者半乳糖 - 葡萄糖相互转化受损，血乳酸水平升高，丙酮酸水平降低，乳酸与丙酮酸比值增加。未出现肝肿大和低血糖，肝脏和肌肉活检未发现糖原贮积症的酶学证据。红细胞尿苷二磷酸半乳糖转移酶活性正常。该患者不能将果糖转化为葡萄糖，乙醇给药后血乳酸升高。进一步研究发现，给予丙氨酸或甘油后均未产生葡萄糖，每次试验均伴有血乳酸水平升高，给予丙氨酸后乳酸与丙酮酸比值增加。给予胰高血糖素后，乳酸与丙酮酸比值升高，同时乳酸浓度增加，丙酮酸浓度降低。
