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

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

doi:10.1038/s41439-021-00159-5

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

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

Authors

Rina Hama¹, Jun Kido^{2

3}, Keishin Sugawara⁴, Toshiro Nakamura⁵, Kimitoshi Nakamura^{1

4}

Affiliations

¹ Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
² Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.
³ Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.
⁴ Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
⁵ Department of Pediatrics, Kumamoto Chuo Hospital, Kumamoto, Japan.

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.