Related Experiment Videos
Malonic aciduria
P T Ozand1, W L Nyhan, A al Aqeel
1Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Brain & Development
|November 1, 1994
Summary
This study reports on three infants with malonic aciduria, a rare metabolic disorder. A distinct variant was identified, differing clinically and biochemically from previously documented cases, with unknown underlying pathology.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Malonic aciduria is a rare metabolic disorder with significant clinical manifestations.
- Previous reports describe specific clinical and biochemical profiles of malonic aciduria patients.
- Understanding the biochemical basis of rare diseases is crucial for diagnosis and treatment.