3-methylcrotonyl-CoA carboxylase deficiency: Metabolic decompensation in a noncompliant child detected through newborn screening
3-methylcrotonyl-CoA carboxylase deficiency: Metabolic decompensation in a noncompliant child detected through newborn screening
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DOI：
10.1542/peds.2006-1659
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发表时间：
2006-12-01
期刊：
影响因子：
8
通讯作者：
Payan, Irma
中科院分区：
文献类型：
--
作者：
Ficicioglu, Can;Payan, Irma
我们报告一个19个月大的女孩与3-甲基巴豆酰辅酶A羧化酶缺乏症，通过新生儿筛查发现。她接受了前12个月的治疗，但在第一年后失去了随访。她的父母没有遵守生病期间的管理或定期医疗评估的建议。在急性疾病，她提出了严重的酸中毒，低血糖症，并在19个月大的低血浆肉毒碱水平。本报告强调了更广泛的后续计划对改善父母遵守情况的重要性。
We report a 19-month-old girl with a 3-methylcrotonyl-coenzyme A carboxylase deficiency that was detected through newborn screening. She was treated for the first 12 months but was lost to follow-up after the initial year. Her parents did not comply with the recommendations for management during periods of illness or for regular medical evaluations. During an acute illness, she presented with severe acidosis, hypoglycemia, and a low plasma carnitine level at 19 months of age. This report highlights the importance of more extensive follow-up plans to improve parental compliance.