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- Title
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
- Authors
Hama, Rina; Kido, Jun; Sugawara, Keishin; Nakamura, Toshiro; Nakamura, Kimitoshi
- 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.
- Subjects
METABOLIC disorders; AMINO acid analysis; LEARNING disabilities; INTELLECTUAL disabilities; GENETIC polymorphisms
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00159-5