A Case report of rare disease Prolidase deficiency in a 15-year-old Pakistan boy

Ullah, Shahid, Tonks, Alex ORCID: https://orcid.org/0000-0002-6073-4976, Ullah Khan, Asif, Alruwaili, Abdulsalam Muharrab and lodhi, Muhammad Arif 2022. A Case report of rare disease Prolidase deficiency in a 15-year-old Pakistan boy. Journal of Rare Diseases Research & Treatment 7 (2) , pp. 1-4. 10.29245/2572-9411/2022/2.1206

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Abstract

Case presentation Prolidase enzyme plays a crucial role in proline-rich proteins metabolism and physiological processes such as inflammation, cell proliferation, wound healing, angiogenesis, and carcinogenesis. Due to mutations in the peptidase D (PEPD) gene, the catalytic activity of prolidase loss results in prolidase deficiency. Deficiency of prolidase enzyme is an autosomal inborn metabolic rare genetic disorder that has neither any proper treatment nor consensus for treatment. With approximately 100 cases recorded worldwide, the submitted manuscript describes the 2nd recorded case of prolidase deficiency, an extremely uncommon autosomal recessive disorder associated with collagen metabolism, in a 15-year-old Pakistan boy. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency often develop skin lesions, especially on their hands, feet, lower legs, and face. The severity of the skin involvement, which usually begins during childhood, may range from a mild rash to severe skin ulcers. The severity of symptoms in prolidase deficiency varies greatly among affected individuals. Here we present the report of a 15-year-old boy who has all the clinical manifestations of deficiency of prolidase. This is the 2nd case in Pakistan's 229,488,994 million population.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Additional Information:	This article is distributed under the terms of the Creative Commons Attribution 4.0 International License.
ISSN:	2572-9411
Date of First Compliant Deposit:	5 July 2022
Date of Acceptance:	1 June 2022
Last Modified:	10 May 2023 23:20
URI:	https://orca.cardiff.ac.uk/id/eprint/151050

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