Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

ABSTRACT:

Background and objectives

Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations.

Methods

The clinical data, blood amino acids, plasma total homocysteine, gene variants, brain imaging, treatments and outcomes of 15 patients with methionine adenosyltransferase I/III deficiency were retrospectively analyzed.

Results

Of these 15 patients, 10 demonstrated neurological abnormalities, with delayed language development, learning difficulties or abnormal brain imaging findings. Eleven patients were identified by newborn screening. Patients with demyelination showed significantly highe

SUBMITTER: Ma X 

PROVIDER: S-EPMC11542214 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature