Birmingham Children's Hospital, Birmingham, UK.
J Hum Nutr Diet. 2012 Dec;25(6):514-9. doi: 10.1111/j.1365-277X.2012.01269.x. Epub 2012 Jul 30.
In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to prevent encephalopathic crisis (EC). In the present study, dietary practices were examined in a single UK centre without access to newborn screening.
Twenty GA1 patients (11 males, median age: 10.2 years, range 2.2-24.1 years) were evaluated. Nine presented without EC (median diagnosis age: 1.1 years, range 4 days to 8 years) and 11 with EC (median diagnosis age 10 months, range 6 months to 1.7 years). Dietary treatment, neurological outcome, anthropometry and biochemical/haematological markers were assessed.
Diet treatment varied according to age of diagnosis and symptom severity. Four of six pre-encephalopathic children diagnosed before 2 years of age were treated with carnitine, protein restriction (medium l.2 g kg day(-1)) and lysine-free/low tryptophan protein substitute (PS) (medium dose: 1.6 g kg day(-1)). EM consisted of natural protein cessation and glucose polymer with PS delivered via an enteral feeding tube. Older children (>3 years) without EC were given carnitine and protein restriction, and seven of nine EC patients had PS via an enteral feeding tube. Clinical deterioration occurred in two patients without EC; one taking PS and protein restriction (with a second untreatable pathology) and one after protein restriction only. In patients presenting with EC, four died and one had some improvement in movement, with the rest remaining stable but with severe disability. Patients taking PS had better nutritional markers [serum vitamin B(12) (P < 0.001), albumin (P < 0.001), haemoglobin (P < 0.001) and essential plasma amino acids].
Early diagnosis of GA1 before EC is essential because PS and protein restriction with meticulous EM prevents EC. PS also improves nutritional status irrespective of clinical condition.
在 1 型戊二酸尿症（GA1）中，进行饮食紧急管理（EM）是预防脑病危象（EC）的必要措施。本研究在一个没有新生儿筛查的英国单一中心检查了饮食实践。
评估了 20 名 GA1 患者（男性 11 名，中位年龄 10.2 岁，范围 2.2-24.1 岁）。9 名患者无 EC 就诊（中位诊断年龄：1.1 岁，范围 4 天至 8 岁），11 名患者有 EC 就诊（中位诊断年龄 10 个月，范围 6 个月至 1.7 岁）。评估了饮食治疗、神经功能预后、人体测量学和生化/血液学标志物。
根据诊断年龄和症状严重程度，饮食治疗各不相同。6 名在 2 岁前诊断为非脑病的儿童中有 4 名接受了肉碱、蛋白限制（中剂量 1.2g/kg/d）和无赖氨酸/低色氨酸蛋白替代物（PS）（中剂量 1.6g/kg/d）治疗。EM 包括停止天然蛋白和葡萄糖聚合物，PS 通过肠内喂养管给予。无 EC 的大龄儿童（>3 岁）给予肉碱和蛋白限制，9 名 EC 患者中有 7 名通过肠内喂养管给予 PS。2 名无 EC 的患者病情恶化；1 名接受 PS 和蛋白限制（伴第二种无法治疗的疾病），1 名仅接受蛋白限制。在 EC 就诊的患者中，4 名死亡，1 名运动功能有一定改善，其余患者保持稳定，但严重残疾。服用 PS 的患者有更好的营养指标[血清维生素 B12（P<0.001）、白蛋白（P<0.001）、血红蛋白（P<0.001）和必需血浆氨基酸]。
在 EC 之前进行早期 GA1 诊断至关重要，因为 PS 和蛋白限制与精心的 EM 可预防 EC。PS 还改善了营养状况，无论临床情况如何。
