Article
Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
American journal of medical genetics - 1 Mar 1993
Shevell M I, Matiaszuk N, Ledley F D, Rosenblatt D S
Abstract excerpt
MethylmalonylCoA mutase (MCM) is a mitochondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into muto and mut- classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with met...
Topics
- Amino Acid Metabolism, Inborn Errors
- Cell Line
- Child
- Child, Preschool
- Developmental Disabilities
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Nervous System Diseases
- Phenotype