Kaikov Y, Wadsworth L D, Hall C A, Rogers P C
Department of Paediatrics, University of British Columbia, British Columbia Children's Hospital, Vancouver, Canada.
Eur J Pediatr. 1991 Oct;150(12):841-3. doi: 10.1007/BF01955004.
A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.
一名6周大的白人男婴出现生长发育迟缓、腹泻、大细胞性贫血和免疫球蛋白G降低的症状。他的血清维生素B12和叶酸水平正常。血清钴胺素结合能力检测显示未检测到转钴胺素II。父母双方的检测结果均显示为杂合子状态。对相关文献进行了广泛综述，并强调了早期诊断对预防神经功能障碍的重要性。
