对维生素B12敏感的CblA甲基丙二酸尿症患者肝脏中的多种氧化磷酸化缺陷
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
作者信息
Valayannopoulos V, Hubert L, Benoist J F, Romano S, Arnoux J B, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre A S, Munnich A, de Keyzer Y, de Lonlay P
机构信息
Reference Center for Inherited Metabolic Disorders, Hôpital Necker-Enfants Malades and Université Paris Descartes, 149 rue de Sèvres, 75743, Paris cedex 15, France.
出版信息
J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13.
An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient's liver. We suggest that patients with B(12)-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications.
一名因钴胺素合成缺陷（CblA）导致的甲基丙二酸尿症成年患者，对维生素B12有反应，突然出现严重视力损害，归因于视神经萎缩，随后出现致命的多器官功能衰竭和乳酸性酸中毒，但血浆和尿液中的甲基丙二酸水平较低。在该患者的肝脏中发现了氧化磷酸化的多种缺陷。我们建议，对于临床病程较轻的对维生素B12敏感的甲基丙二酸尿症患者，应密切监测其长期并发症。
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