Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S187-90. doi: 10.1007/s10545-009-1143-7. Epub 2009 Apr 4.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. The majority of patients with VLCADD can be detected through newborn screening (NBS) with elevated levels of the tetradecanoyl carnitine species. An 11-month-old infant, diagnosed with late-onset VLCADD (genotype: T848C/G1322A) through newborn screening at birth, was admitted with emesis, severe lethargy, limpness in extremities, loss of muscle tone and an elevated CK level. He was mistakenly given Ketocal formula (about 8 g/kg per day long-chain fat-over six times his usual intake) instead of his usual Monogen formula for 2.5 days before being admitted. Once admitted, he was started on Monogen and IV (10% dextrose) fluids. He was discharged home after four days in the hospital without any sequelae of this accidental fat loading event. The report highlights several important points about this particular case and more generally about patients with VLCADD detected through NBS: (1) the amount of time in which patients might become severely symptomatic and the nature of these symptoms after fat loading; (2) the time frame for complete recovery after beginning of treatment; (3) the importance of alerting home-care companies and families about formula delivery errors and their repercussions.
长链酰基辅酶 A 脱氢酶缺乏症（VLCADD）是一种脂肪酸氧化的常染色体隐性遗传病。大多数 VLCADD 患者可通过新生儿筛查（NBS）检测到，筛查结果为十四烷酰肉碱水平升高。一名 11 月龄婴儿在出生时通过新生儿筛查被诊断为迟发性 VLCADD（基因型：T848C/G1322A），因呕吐、严重嗜睡、四肢无力、肌张力丧失和 CK 水平升高而入院。在入院前的 2.5 天里，他被错误地给予了 Ketocal 配方（约 8 g/kg 长链脂肪，是他通常摄入量的六倍以上），而不是他通常的 Monogen 配方。入院后，他开始使用 Monogen 和 IV（10%葡萄糖）补液。在住院四天后，他没有出现任何因这次意外脂肪负荷事件导致的后遗症而出院。该报告强调了这个特殊病例以及更普遍地通过 NBS 检测到的 VLCADD 患者的几个重要要点：（1）患者可能出现严重症状的时间以及脂肪负荷后这些症状的性质；（2）开始治疗后完全康复的时间框架；（3）提醒家庭护理公司和家庭注意配方交付错误及其影响的重要性。
