Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.

ABSTRACT: Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients. Delayed diagnosis, particularly in older patients, may reflect the diagnostic odyssey usually observed in rare diseases' patients and can result in complications and reduced quality of life for patients and their families. The aim of the study was to better characterize the diagnosis of IMDs in older patients (≥ 65 years). We conducted a systematic literature review (SLR) to examine the diagnosis and clinical presentation of IMDs in patients aged 65 and older. We searched databases like PubMed,

SUBMITTER: Moio MR 

PROVIDER: S-EPMC12100460 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature