Retbi J M, Gabilan J C, Marsac C
Arch Fr Pediatr. 1975 Apr;32(4):367-80.
Famialial defect of hepatic fructose-1,6-diphosphatase. Diagnosis was suspected in a male newborn since a brother was also concerned by the disease. The disease may be therefore diagnosed early, when the onset is neonatal. In the neonatal distress syndromes due to hereditery disorders of metabolism, a semiologic field may be isolated in which symptoms begin after an interval of short duration with hypoglycemia, hepatomegaly, lactic acidosis and ketosis ("enlarged liver hypoglycemia"). This possibility leads first to a symptomatic treatment of hypoglycemia and acidoketosis, then to the feeding with human milk and simple functional tests for the diagnostic approach.
家族性肝果糖-1,6-二磷酸酶缺陷。一名男性新生儿因哥哥也患有该病而疑似患有此疾病。因此，当疾病在新生儿期发病时可早期诊断。在因遗传性代谢紊乱导致的新生儿窘迫综合征中，可能存在一个特定的症状群，症状在短时间间隔后出现，伴有低血糖、肝肿大、乳酸酸中毒和酮症（“肝脏肿大伴低血糖”）。这种可能性首先导致对低血糖和酸酮症进行对症治疗，然后采用母乳喂养并进行简单的功能测试以进行诊断。
