Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.

ABSTRACT:

Background

Methylmalonic acidemia (MMA) is the most common organic acidemia in China, with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present study aimed to investigate the prognostic manifestations and their possible influence in patients with these two subtypes.

Methods

A national multicenter retrospective study of patients with cblC-MMA and mut-MMA between 2004 and 2022 was performed. We compared the clinical features between patients with two subtypes or diagnosed with or without newborn screening (NBS) and further explored the potentially influential factors on the prognosis.

Results

The 1617 enrolled MMA patients included 81.6% cblC-MMA patients and 18.4% mut-MMA patients, with an overall poor prognosis rate of 71.9%. These two subtype

SUBMITTER: Hao L 

PROVIDER: S-EPMC12122358 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature