ArticleJournal of computer assisted tomography
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria.
Article in Journal of computer assisted tomography. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Recent research advances in the biological function and molecular mechanism of methylmalonic acid.Journal of Zhejiang University. Science. B · 2025Review
- NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias.Biomolecules · 2024Review
- Follow-up study of neuropsychological scores of infant patients with cobalamin C defects and influencing factors of cerebral magnetic resonance imaging characteristics.Frontiers in neuroscience · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aims of this study were to describe the brain magnetic resonance imaging (MRI) features of methylmalonic aciduria and homocystinuria and to evaluate the additional value of H-MRS. PATIENTS AND
methodsTwenty-eight children with methylmalonic aciduria and homocystinuria were included in this study. The control group included 21 healthy children. All the cases underwent MRI and H-MRS before treatment. We measured the N-acetylaspartate (NAA), choline (Cho), creatine (Cr), and myoinositol (mI) peaks in the basal ganglia regions. The NAA/Cr, Cho/Cr, mI/Cr, and NAA/Cho ratios were calculated. We also observed whether there were lactic acid peaks.
resultWe identified that NAA/Cr and NAA/Cho significantly decreased in the basal ganglia and that 3 patients showed lactate peaks, but other metabolites were not significantly altered. Hydrocephalus and diffuse supratentorial white matter edema were the primary MR findings; 7 patients had thinning of the corpus callosum, and 2 patients had subdural hematoma. Six patients showed normal brain MRI findings.
conclusionsMethylmalonic aciduria and homocystinuria patients with metabolite changes in the basal ganglia demonstrate compromised neuronal integrity, and anerobic metabolism occurs in acute encephalopathic episodes. H-MRS is a useful tool for evaluating brain damage. Hydrocephalus and diffuse supratentorial white matter edema are the main MRI features.
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