Ribes A, Briones P, Vilaseca M A, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R
Institut de Bioquímica, Clínica de la Diputació de Barcelona, Cerdanyola, Spain.
Eur J Pediatr. 1990 Mar;149(6):412-5. doi: 10.1007/BF02009662.
A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without success. Treatment with betaine started at 25 months of age, normalized plasma methionine and elicited disappearance of homocystinaemia. Results of biochemical studies in cultured fibroblasts paralleled those described for other Cbl-C patients except that methylmalonyl-coenzyme A mutase activity in disrupted fibroblasts was in the normal range.
本文描述了一名患有婴儿期起病的甲基丙二酸尿症和高胱氨酸尿症（钴胺素C突变型）的患者。使用羟钴胺素、叶酸和维生素B6进行治疗改善了他的病情。由于低蛋氨酸血症和高胱氨酸血症持续存在，给他使用了肌肉注射甲基钴胺素进行治疗，但未成功。在25个月大时开始使用甜菜碱治疗，使血浆蛋氨酸正常化，并使高胱氨酸血症消失。培养的成纤维细胞的生化研究结果与其他钴胺素C患者的描述相似，只是破碎的成纤维细胞中的甲基丙二酰辅酶A变位酶活性在正常范围内。
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