Vitamin B12 disorders

This pathway depicts the metabolism of cobalamin (also known as cbl or vitamin B12) and related diseases (for a full overview of the B12 metabolism, see [https://www.wikipathways.org/index.php/Pathway:WP1533]). Vit. B12 is derived from food sources and thereafter metabolised for 2 reasons; 1. to methylate homocysteine to methionine, and 2. to convert methylmalonyl-CoA to succinyl-CoA. This pathway depicts 15 distinct diseases which are related to a malfunctioning in the absorption and transport section, or the intracellular processing of Cbl. However, the exact function of some proteins which have been linked to these diseases, remains unclear. Substitution of Vit. B12 is a therapeutic option for patients with absorption and transport related diseases, however does not perform so well for patient with intracellular processing defects. This pathway was inspired by Chapter 13 of the book of Blau (ISBN 3642403360 (978-3642403361)).

本路径图描绘了钴胺素（又称cbl或维生素B12）的代谢及其相关疾病（欲了解维生素B12代谢的全面概述，请参阅[https://www.wikipathways.org/index.php/Pathway:WP1533]）。维生素B12源于食物来源，随后因两个原因进行代谢：一为将同型半胱氨酸甲基化成甲硫氨酸，二为将甲基丙二酰辅酶A转化为琥珀酰辅酶A。本路径图展示了15种独特的疾病，这些疾病与Cbl的吸收和转运部分或细胞内处理功能异常相关。然而，一些与这些疾病相关联的蛋白质的确切功能尚不明确。对于吸收和转运相关的疾病患者，维生素B12替代疗法是一种治疗选择，但对于细胞内处理缺陷的患者，其疗效则不尽如人意。此路径图灵感来源于Blau所著之书的第13章（ISBN 3642403360（978-3642403361））。