Dobrowolski Steven F, Ghaloul-Gonzalez Lina, Vockley Jerry
Department of Pathology.
Division of Medical Genetics, Children's Hospital of Pittsburgh, PA, USA.
Pediatr Rep. 2017 Nov 21;9(4):7045. doi: 10.4081/pr.2017.7045.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. Nutritional support advanced from parenteral nutrition at 24 hours to enteral feeds. A NBS sample was collected day 2, positive results for MCADD was reported day six, and diagnostic tests were performed day seven. Lab results confirmed MCADD; however, representation of pathologic analytes was so extreme that ingestion of medium chain triglycerides was suspected and subsequently confirmed. Diet was adjusted and reflected in moderation of pathologic analytes. This case emphasizes the need for prompt review NBS results in premature infants. Implementing informatic intervention within electronic medical records, when a disorder requiring special nutritional intervention is identified, will protect premature infants in this vulnerable setting. Standard of care management provided premature infants may be contraindicated in the context of a comorbid inborn error of metabolism.
中链酰基辅酶A脱氢酶缺乏症（MCADD）通过新生儿筛查（NBS）得以确诊。MCADD的自然病程包括代谢失代偿，伴有低血糖、高氨血症、惊厥、昏迷及死亡。新生儿筛查可实现预期管理，因此在接受管理的患者中严重症状较为罕见。我们报告了一名患有MCADD的婴儿早产及由此产生的管理挑战。营养支持从出生后24小时的肠外营养逐步过渡到肠内喂养。出生第2天采集了新生儿筛查样本，第6天报告MCADD检测结果为阳性，第7天进行了诊断性检查。实验室结果证实了MCADD；然而，病理分析物的表现非常极端，怀疑摄入了中链甘油三酯，随后得到证实。调整了饮食，病理分析物也相应得到缓解。该病例强调了对早产儿的新生儿筛查结果进行及时复查的必要性。当识别出需要特殊营养干预的疾病时，在电子病历中实施信息干预，将在这种脆弱情况下保护早产儿。在存在合并代谢性先天性疾病的情况下，为早产儿提供的标准护理管理可能并不适用。
