JOURNAL ARTICLE

O01 Inborn errors of metabolism - Solving the puzzle of prolidase deficiency.

  • Published In: British Journal of Dermatology, 2024, v. 190. P. i1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Byth, Lachlan; McPherson, Tess 3 of 3

Abstract

The article focuses on prolidase deficiency, a rare inborn error of metabolism (IEM) characterized by impaired collagen recycling, persistent lower limb ulcers, and elevated imidodipeptiduria. It presents the diagnostic challenges illustrated by two siblings with hydroa vacciniforme-like photosensitivity, highlighting limitations of conventional and whole genome sequencing methods. The report discusses the impact of chronic skin disease on quality of life, explores potential links to hydroa vacciniforme, and reviews current therapeutic options and translational research prospects. A structured approach to clinical and genetic diagnosis of IEM in pediatric dermatology is also proposed.

Additional Information

  • Source:British Journal of Dermatology. 2024/01, Vol. 190, pi1
  • Document Type:Article
  • Subject Area:Complementary and Alternative Medicine
  • Publication Date:2024
  • ISSN:0007-0963
  • DOI:10.1093/bjd/ljad483.001
  • Accession Number:174602673
  • Copyright Statement:Copyright of British Journal of Dermatology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Looking to go deeper into this topic? Look for more articles on EBSCOhost.