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

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 ami...

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Autores principales: Hama, Rina, Kido, Jun, Sugawara, Keishin, Nakamura, Toshiro, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292323/
https://www.ncbi.nlm.nih.gov/pubmed/34285201
http://dx.doi.org/10.1038/s41439-021-00159-5
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author Hama, Rina
Kido, Jun
Sugawara, Keishin
Nakamura, Toshiro
Nakamura, Kimitoshi
author_facet Hama, Rina
Kido, Jun
Sugawara, Keishin
Nakamura, Toshiro
Nakamura, Kimitoshi
author_sort Hama, Rina
collection PubMed
description 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.
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spelling pubmed-82923232021-07-23 Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH Hama, Rina Kido, Jun Sugawara, Keishin Nakamura, Toshiro Nakamura, Kimitoshi Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-07-20 /pmc/articles/PMC8292323/ /pubmed/34285201 http://dx.doi.org/10.1038/s41439-021-00159-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Hama, Rina
Kido, Jun
Sugawara, Keishin
Nakamura, Toshiro
Nakamura, Kimitoshi
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title_full Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title_fullStr Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title_full_unstemmed Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title_short Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
title_sort hyperprolinemia type i caused by homozygous p.t466m mutation in prodh
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8292323/
https://www.ncbi.nlm.nih.gov/pubmed/34285201
http://dx.doi.org/10.1038/s41439-021-00159-5
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