ArticleHuman genome variation2021
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
Article in Human genome variation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- CoQExperimental & molecular medicine · 2026Review
- Osmotic Nephropathy Induced by L-Proline Stabilized Sucrose-free Intravenous Immunoglobulins: A Case Report.Kidney medicine · 2026Article
- Review
- Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.Movement disorders clinical practice · 2023Article
- Proline transporters ProT and PutP are required for Staphylococcus aureus infection.PLoS pathogens · 2023Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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