Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
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ABSTRACT:
SUBMITTER: Hama R
PROVIDER: S-EPMC8292323 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
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Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Hama Rina R Kido Jun J Sugawara Keishin K Nakamura Toshiro T Nakamura Kimitoshi K
Human genome variation 20210720 1
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 le ...[more]
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