Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.

ABSTRACT:

Background

Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA patients. While fluctuations in these toxic metabolites are common in MMA patients, their precise impact on neurodevelopment remains unclear.

Results

This study enrolled 20 MMA patients, comprising 14 vitamin B12 non-responsive (B12-NR) type and 6 vitamin B12 responsive (B12-R) type. Diverse parameters were assessed, including methylmalonic acid (MA), methylcitric acid (MCA), propionylcarnitine (C3), acetylcarnitine (C2), ammonia, glycine, and lactate. Cognitive function was evaluated using the Bayley-III and Wechsler intelligenc

SUBMITTER: Ling IC 

PROVIDER: S-EPMC11998238 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature