新生儿筛查中发现无症状的母体同型胱氨酸尿症和甲基丙二酸血症（cblC），其血肉碱水平降低。
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
机构信息
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
出版信息
J Pediatr. 2009 Dec;155(6):924-7. doi: 10.1016/j.jpeds.2009.06.046.
PMID:19914430
Abstract
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
摘要
一位无症状女性在新生儿筛查中生下了一个肉碱水平低的女孩。婴儿未受影响，但母亲有特征性的生化异常和维生素 B(12)代谢 cblC 缺陷的突变（迟发型）。这位 cblC 患者是通过其婴儿的新生儿筛查发现的。
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