Late-onset cblC defect: clinical, biochemical and molecular analysis.

ABSTRACT:

Background

cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect.

Methods

A total of 85 patients with late-onset cblC defect were enrolled. Clinical data, including manifestations, metabolites, molecular diagnosis, treatment and outcome, were summarized and analyzed.

Results

The age of onset ranged from 2 to 32.8 years old (median age 8.6 years, mean age 9.4 years). The time between first symptoms and diagnosis ranged from a few days to 20 years (median time 2 months, mean time 20.7 months). Neuropsychiatric symptoms were pres

SUBMITTER: Ding S 

PROVIDER: S-EPMC10536707 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature