高脯氨酸血症是一种遗传病，其会导致血浆脯氨酸水平升高。同时尿脯氨酸、羟脯氨酸、甘氨酸亦会增加其排泄量。
此遗传病若与伴侣各携带同一缺陷基因，下一代罹病的机率不分性别皆为四分之一。
遗传方面，其遗传方式为一体染色体隐性遗传模式。
参考资料
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