The Clinical Landscape with Biochemical and Immunological Indicators of Prolidase Deficiency

Abstract

This article examines Prolidase Deficiency (PD), an autosomal recessive disorder marked by diverse clinical symptoms and significant biochemical and immunological abnormalities. Originating from mutations in the peptidase D (PEPD) gene, PD disrupts the metabolism of proline-rich proteins, leading to a range of manifestations. Clinically, PD presents early with growth delays, recurrent infections, and autoimmune disorders, with neurological impacts including developmental delays and intellectual disabilities. Skin issues like chronic ulcers and eczema are common, and respiratory complications add to the disease's complexity. Gastrointestinal features and hematological conditions such as anemia and thrombocytopenia further complicate PD. Immunologically, PD is associated with hypergammaglobulinemia and systemic lupus erythematosus (SLE), highlighting the immune system's involvement. Biochemically, imidopeptiduria serves as a critical diagnostic marker. Diagnostics range from high-performance liquid chromatography to MALDI-TOF MS, while treatment strategies are diverse, reflecting the challenge of managing PD. This study emphasizes the need for a comprehensive approach to understand and manage the multifaceted nature of PD.