Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

ABSTRACT:

Purpose

Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature.

Methods

Nineteen patients were phenotyped per local institutional procedures. A systematic review following PRISMA criteria identified 132 articles describing 161 patients. Main outcome analyses were performed for manifestation frequency, diagnostic delay, overall survival, symptom-free survival, and ulcer-free survival.

Results

Our cohort presented a wide variability of severity. Autoimmun

SUBMITTER: Rossignol F 

PROVIDER: S-EPMC8463480 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature