医学
钴胺素
未能茁壮成长
儿科
身材矮小
失代偿
新生儿筛查
心力衰竭
无症状的
疾病
胎龄
甲基丙二酸血症
心脏病
内科学
维生素B12
怀孕
遗传学
生物
作者
Olajumoke Oladipo,David S. Rosenblatt,David Watkins,Isabelle R. Miousse,Laurie Sprietsma,Dennis J. Dietzen,Marwan Shinawi
出处
期刊:Pediatrics
[American Academy of Pediatrics]
日期:2011-11-08
卷期号:128 (6): e1636-e1640
被引量:14
标识
DOI:10.1542/peds.2010-3518
摘要
The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin (vitamin B12) into the cytoplasm caused by mutations in the LMBRD1 gene. We present the clinical and biochemical characterization of a patient with newly diagnosed cblF disease and a follow-up on a 14-year-old patient. The new patient presented with elevation of propionyl carnitine found on a newborn screen. The patient was small for gestational age, exhibited dysmorphic features and mild developmental delay, and had trigonocephaly and ventricular septal defect. There was biochemical normalization and clinical improvement within 3 weeks of parenteral cobalamin treatment. The other patient presented at 4 weeks of life with failure to thrive and feeding difficulties. She was treated only with monthly cyanocobalamin shots. The patient has never experienced metabolic decompensation. She had short stature and was an average student with no behavioral concerns. Her metabolic derangements normalized after switching to weekly hydroxycobalamin. The available data on 14 patients with confirmed cblF disease suggest variability in age of onset, presenting symptoms, response to treatment, and long-term complications. Common clinical findings include small for gestational age, feeding difficulties, growth failure, and developmental delays. Some patients have congenital heart defects, dysmorphic features, and other congenital anomalies.
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