Delay in diagnosis of classical homocystinuria
Wanninayake, Subadra Sharma, Reena Green, Diane Bassett, John Geberhiwot, Tarekegn Dawson, Charlotte
Wanninayake, Subadra
Sharma, Reena
Green, Diane
Bassett, John
Geberhiwot, Tarekegn
Dawson, Charlotte
Abstract
Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis in our cohort of adults with HCU. This retrospective cross-sectional study was conducted in two tertiary referral centres for adult inherited metabolic disorders in the United Kingdom. Fifty-nine patients with sufficient clinical data for detailed analysis were included. 13/59 patients were detected asymptomatically through newborn or family screening and 46/59 were diagnosed on initial presentation with a clinical manifestation of HCU. For 15/54 (27.8%), the median time between initial presentation and diagnosis was 7 years (IQR, 2-11.9), the commonest first manifestation in the delayed group was lens subluxation (6/15, 40%) followed by venous thromboembolism (5/15, 33.3%) and skeletal deformities (2/15, 13.3%). 15/46 (32.6%) had two or more complications by the time of diagnosis. Lens subluxation is the commonest first manifestation of HCU in the group with delayed diagnosis. Early recognition, expanded screening and enhanced clinician awareness are essential for timely diagnosis and improved outcomes.
MIDER Authors
Affiliations
Date
2026-06-03
Type
Article
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Citation
Wanninayake S, Sharma R, Green D, Bassett J, Geberhiwot T, Dawson C. Delay in Diagnosis of Classical Homocystinuria. JIMD Rep. 2026 Jun 3;67(4):e70087. doi: 10.1002/jmd2.70087.