Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway.
J Inherit Metab Dis. 2011 Feb;34(1):111-9. doi: 10.1007/s10545-010-9119-1. Epub 2010 May 27.
Cobalamin and the metabolic markers methylmalonic acid and total homocysteine undergo marked changes during childhood. In breastfed infants a metabolic profile indicative of cobalamin deficiency is common. Symptoms of cobalamin deficiency in children differ with age, presenting a continuum from subtle developmental delay to life-threatening clinical conditions. The symptoms may be difficult to detect, particularly in infants, and there tends to be a diagnostic delay of several months in this age group. Several reports show that even moderate deficiency in children may be harmful, and long-term consequences of neurological deterioration may persist after cobalamin deficiency has been treated. Given the crucial role of cobalamin for normal growth and development, possible widespread infantile deficiency needs attention. Cobalamin deficiency should be considered a differential diagnosis in children with subtle symptoms, and strategies to prevent cobalamin deficiency in mothers and children should be addressed.
钴胺素和代谢标志物甲基丙二酸和总同型半胱氨酸在儿童期会发生明显变化。在母乳喂养的婴儿中，常见代谢特征提示钴胺素缺乏。儿童的钴胺素缺乏症状随年龄而不同，从微妙的发育迟缓到危及生命的临床状况呈连续变化。这些症状可能难以察觉，特别是在婴儿中，而且在这个年龄段，通常会有几个月的诊断延迟。有几项报告表明，即使是儿童的中度缺乏也可能有害，而且在治疗钴胺素缺乏后，神经恶化的长期后果可能仍然存在。鉴于钴胺素对正常生长和发育的至关重要性，可能广泛存在的婴儿期缺乏需要引起重视。在有轻微症状的儿童中，应考虑将钴胺素缺乏作为鉴别诊断，应采取策略来预防母亲和儿童的钴胺素缺乏。
