Matei L, Teodorescu M I, Kozma A, Iordan Dumitru A D, Stoicescu S M, Carniciu S
"Alessandrescu-Rusescu" National Institute for Mother and Child Health - Research Department in Social Pediatrics and Obstetrics, Bucharest, Romania.
"Alessandrescu-Rusescu" National Institute for Mother and Child Health - "Titu Maiorescu" University - Faculty of Dental Medicine, Bucharest, Romania.
Acta Endocrinol (Buchar). 2019 Oct-Dec;15(4):526-530. doi: 10.4183/aeb.2019.526.
Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition.
This case is a 5-year and 11-month-old female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated.
The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.
0型糖原贮积病是一种遗传性代谢紊乱疾病，其特征是肝糖原合酶缺乏糖原合成，因此肝脏糖原储备量正常。这是一种极其罕见的病症。
该病例为一名5岁11个月大的女童，在过去两年中出现无症状性严重低血糖。在入院期间及之后，进行了广泛的临床辅助检查和影像学检查以诊断和记录该病例，这导致了特定的基因检测。结果显示GYS2基因（肝糖原合酶）存在2个杂合突变呈阳性，p.547C>T突变具有致病性（1类），c.465del移码突变可能具有致病性（2类）。为了整合患有这种疾病患者的临床情况，并建立关于特定方面与一般发育和表型的潜在相关性，对口腔-牙齿状况进行了调查。
调查在几个方面显示与文献数据呈正相关：身材矮小、低血糖伴高酮血症但血浆乳酸正常、餐后及矛盾性高血糖、骨骼发育延迟等。口腔-颊-上颌方面显示出牙略有延迟。需要饮食治疗、更严格的口腔护理和额外的预防措施。
