Vol 7-2 Case Report

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

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.

DOI: 10.29245/2572-9411/2022/2.1206 View / Download Pdf
Vol 7-2 Research Article

Academic Productivity from Rare Neuromuscular Disease Registries: A Systematic Review

Background: TREAT-NMD is a global neuromuscular (NM) organization, created to enhance infrastructure to facilitate novel therapeutics reaching patients. One main activity is aimed at supporting NM disease registries. These rare disease registries are useful to fill knowledge gaps for various stakeholders in the disease community using real world data. Although it is important to understand how patient data is being utilized in the TREAT-NMD network and other rare disease registries, there is no systematic process or consistent metric for documenting the academic output from these registries.

Objectives: The objective of this study was to determine the academic output from NM registries associated with the TREAT-NMD network, and the types of research the data is facilitating.

Results: A systematic search of EMBASE, Medline, Cochrane Central and SCOPUS was performed from inception to November 24, 2021. The search yielded a total of 650 results, with 231 full text studies assessed for eligibility and a total of 97 studies that met the inclusion criteria.

Conclusions: The results suggest publications from TREAT-NMD are mainly descriptive or methodologic. Rare disease registries, like the TREAT-NMD network, would benefit from clear and consistent metrics to facilitate reporting of academic output.

DOI: 10.29245/2572-9411/2022/2.1204 View / Download Pdf