Related Experiment Videos
Cerebral CT findings in methylmalonic acid propionic acidemias
AJNR. American Journal of Neuroradiology
|July 1, 1983
Summary
Methylmalonic acidemia and propionic acidemia can cause brain damage visible on CT scans. Ketoacidosis from these metabolic disorders may lead to leukoencephalopathy, sometimes treatable with vitamin supplementation.
Area of Science:
- Neurology
- Metabolic Disorders
- Radiology
Background:
- Methylmalonic acidemia and propionic acidemia are rare genetic disorders affecting vitamin B12 (cobalamin) and biotin metabolism.
- These conditions lead to the buildup of toxic metabolites, including ketoacids, impacting brain health.
Observation:
- Cerebral computed tomographic (CT) scans of patients with these acidemias revealed specific abnormalities.
- Observed abnormalities included focal or diffuse lucencies in the deep cerebral hemispheres and generalized loss of brain substance.
Findings:
- CT findings correlated significantly with the clinical presentation and pathological features of the patients.
- Leukoencephalopathy was a prominent finding, suggesting a link between ketoacidosis and white matter damage.
Implications:
- The study highlights the utility of CT imaging in diagnosing and understanding the neurological impact of methylmalonic acidemia and propionic acidemia.
- Early recognition and management of ketoacidosis, potentially through vitamin supplementation, may mitigate or reverse neurological damage in affected individuals.