Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

ABSTRACT:

Background

The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some countries have newborn screening programs for the homocystinurias but these do not detect all patients.

Results

HCU Network Australia is one of the very few support groups for patients with homocystinurias. Here we report the results of its survey of 143 patients and caregivers from 22 countries, evaluating current diagnostic pathways and management for the homocystinurias. Most (110) of the responses related to patients with CBS deficiency. The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial sympt

SUBMITTER: Morrison T 

PROVIDER: S-EPMC7945666 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature