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中文Clpb Deficiency (MGA7)
Alias:
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome
3-Methylglutaconic Aciduria Type Vii
Caseinolytic Peptidase B Deficiency
3-Methylglutaconic Aciduria Type 7
Clpb Defect
Megcann
Mgca7
Mga7
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CLPB 缺陷，也被称为 3-甲基戊二酸尿症伴有白内障、神经病变和中性粒细胞减少症，与中性粒细胞减少症、严重先天性、9 号常染色体显性遗传和中性粒细胞减少症有关。与 CLPB 缺陷有关的重要基因是 CLPB（ClpB 家族线粒体解聚酶）。附属组织包括肾脏和大脑。
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