由脯氨酸脱氢酶（PRODH）纯合p.T466M突变引起的I型高脯氨酸血症。

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.

作者信息

Hama Rina, Kido Jun, Sugawara Keishin, Nakamura Toshiro, Nakamura Kimitoshi

机构信息

Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

出版信息

Hum Genome Var. 2021 Jul 20;8(1):28. doi: 10.1038/s41439-021-00159-5.

DOI:10.1038/s41439-021-00159-5

PMID:34285201

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8292323/

Abstract

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.

摘要

I型高脯氨酸血症（HPI）是一种由脯氨酸氧化酶缺陷引起的常染色体隐性代谢紊乱疾病。我们在此描述了一例患有I型高脯氨酸血症的患者，通过血浆氨基酸分析和桑格测序检测到其携带NM_016335.4（PRODH_v001）：c.1397 C > T（p.T466M）突变以及PRODH基因多态性。该患者表现出身材矮小、偏好富含碳水化合物的饮食，以及提示神经发育或学习障碍的轻度智力残疾。