Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms in the PRODH gene, as detected by plasma amino acid analysis and Sanger sequencing. The patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability that was suggestive of a neurodevelopmental or learning disorder.

中文翻译：

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PRODH纯合p.T466M突变引起的I型高脯氨酸血症

I型高脯氨酸血症（HPI）是一种常染色体隐性遗传代谢疾病，由脯氨酸氧化酶缺陷引起。我们在本文中描述了一个患有 HPI 的患者的病例，其通过血浆氨基酸分析和 Sanger 测序检测到PRODH基因中存在 NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) 突变和多态性。患者出现身材矮小、富含碳水化合物的饮食偏好和轻度智力障碍，提示存在神经发育或学习障碍。