Bodamer Olaf A, Feillet Francois, Lane Rebecca E, Lee Philip J, Dixon Marjorie A, Halliday Dave, Leonard James V
Biochemistry, Metabolism, Endocrinology Unit, Institute of Child Health, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
Eur J Gastroenterol Hepatol. 2002 Nov;14(11):1251-6. doi: 10.1097/00042737-200211000-00014.
Uncooked cornstarch (UCCS) is used widely for the treatment of patients with glycogen storage disease type I (GSD-I). Previous studies suggested that glucose absorption may be impaired in GSD-I. In order to measure utilization of UCCS in young adults with GSD-Ia and healthy controls, we used a C-breath test based on the natural enrichment of C in UCCS.
Open, not randomized, prospective interventional study.
Following 1 g/kg UCCS, we studied eight subjects with GSD-Ia (7 males, 1 female; mean age 28.3 years, range 16-42 years) and 15 healthy controls (10 males, 5 females; mean age 23.5 years, range 19-36 years). Breath samples for analysis of CO enrichment were collected at baseline and at 30-min intervals for 6 h or until hypoglycaemia occurred. Indirect calorimetry was used to measure respiratory gas exchange. Intermediate metabolites, lipids and glucose were measured in plasma. Breath H concentrations were measured as an indicator of malabsorption.
Cumulative utilization over 6 h was significantly higher in controls (18.35 +/- 6.2% of total carbohydrate intake) than in subjects with GSD-Ia (11.5 +/- 4.7%) (P < 0.02). However, utilization of UCCS was virtually identical up to 2.5 h. Two subjects with GSD-Ia fulfilled the criteria for malabsorption.
Starch digestion and absorption are not impaired in GSD-Ia. However, overall utilization of UCCS appears to be lower in GSD-Ia, which is most likely secondary to perturbed intermediary metabolism. There are important implications for treatment of this disorder. Ways to improve the efficacy of UCCS in GSD-I are needed.
生玉米淀粉（UCCS）被广泛用于治疗Ⅰ型糖原贮积病（GSD-Ⅰ）患者。既往研究提示，GSD-Ⅰ患者的葡萄糖吸收可能受损。为了测定UCCS在年轻成年GSD-Ⅰa型患者及健康对照中的利用情况，我们采用了基于UCCS中碳自然富集的碳呼气试验。
开放性、非随机、前瞻性干预研究。
给予1 g/kg UCCS后，我们研究了8例GSD-Ⅰa型患者（7例男性，1例女性；平均年龄28.3岁，范围16 - 42岁）和15名健康对照（10例男性，5例女性；平均年龄23.5岁，范围19 - 36岁）。在基线及之后每30分钟采集呼气样本分析一氧化碳富集情况，持续6小时或直至低血糖发生。采用间接测热法测量呼吸气体交换。检测血浆中的中间代谢产物、脂质和葡萄糖。测量呼气氢浓度作为吸收不良的指标。
6小时内的累积利用率在对照组（占总碳水化合物摄入量的18.35±6.2%）显著高于GSD-Ⅰa型患者（11.5±4.7%）（P<0.02）。然而，直至2.5小时UCCS的利用率实际上是相同的。2例GSD-Ⅰa型患者符合吸收不良的标准。
GSD-Ⅰa型患者的淀粉消化和吸收未受损。然而，GSD-Ⅰa型患者中UCCS的总体利用率似乎较低，这很可能继发于中间代谢紊乱。这对该疾病的治疗有重要意义。需要找到提高UCCS在GSD-Ⅰ中疗效的方法。
