进食甜点后呕吐、乏力，伴甘油尿

Vomiting, weakness and glyceroluria after eating dessert

患儿，女，6岁，2年内先后2次“进食甜点后出现呕吐、乏力伴发热1d”入住青岛大学附属医院神经内分泌儿科。急查血气分析有严重低血糖、重度酸中毒和高乳酸血症，尿酮体阳性，低血糖和酸中毒纠正迅速；患儿生长发育良好，智力水平正常，肝轻度大；血清尿酸一过性升高，2次尿气相色谱质谱分析提示甘油尿和酮尿。甘油尿是独特的代谢异常指标，以“甘油尿”为关键词，在PubMed查相关文献，检索到3种相关疾病：果糖-1，6-二磷酸酶缺乏症、甘油激酶缺乏症和复合型甘油激酶缺乏症。进一步阅读3种疾病相关文献，了解疾病特点和实验室检查，临床基本排除甘油激酶缺乏症和复合型甘油激酶缺乏症。Sanger测序检测FBPl基因突变，发现该女童携带F卯，基因的复合杂合突变c．355G〉A/C．960delG，并且是目前尚未报道的新突变。追溯疾病的特质性线索进行靶向性基因检测，是遗传代谢病精准诊断和治疗的有效方法之一。

During 2 years, a 6 - year - old girl was hospitalized for 2 times with recurrent onset of episodes of vomiting,weakness and fever after eating dessert at the Department of Neurology ＆ Endocrine Pediatrics, the Affiliated Hospital of Qingdao University. The arterial blood gas analysis revealed severe hypoglycemia,laeticacidemia and metabolic acidosis, the urine ketone body was positive. After intravenous infusion of glucose, bicarbonate and antibiotics, there was a dramatic clinical improvement in a short time. Physical examination showed tachypnea and mild hepatomegaly, and she had normal physical and mental development. The laboratory findings revealed transient hyperuricacidemia. Urine organic acids analysis repeatedly showed an elevation of lactic acid ,ketone and glycerol. Glyceroluria was a very distinctive trait. The literatures in PubMed was searched with glyeeroluria as keyword. Three related diseases were identified：FBPase deft- ciency,glycerol kinase （GK） deficiency and complex GK deficiency. Further reading of related literatures to understand the characteristics of diseases and laboratory tests, the clinical diagnosis of GK deficiency and complex GK deficiency was excluded. The mutation analysis of FBPase gene （FBP1） was performed by Sanger sequencing and a novel compound heterozygous mutations of c. 355G 〉 A and c. 960delG was discovered. Full analysis of disease - related traits and targeted gene testing is one of the effective methods for accurate diagnosis and treatment of inherited metabolic disorders.