Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

ABSTRACT: A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening (NBS) programs has led to the identification of an increasing number of PCD patients, including mothers of screened newborns, who may show a different phenotype compared to clinically diagnosed patients. To elucidate the spectrum of signs and symptoms in PCD patients, we performed a structured literature review. Using a case-by-case approach, clinical characteristics, diagnostic data, and mode of patient identification were recorded. Signs and symptoms were categorized by organ involvement. In total, 166 articles were included, reporting data

SUBMITTER: Crefcoeur LL 

PROVIDER: S-EPMC9305179 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature