An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith, Emily Helen

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. [electronic resource] - Journal of inherited metabolic disease Dec 2010 - S349-53 p. digital

Publication Type: Case Reports; Journal Article

1573-2665

10.1007/s10545-010-9183-6 doi


Age of Onset
Biomarkers--blood
DNA Mutational Analysis
Fatty Acids--blood
Genetic Predisposition to Disease
Homozygote
Humans
Leukoencephalopathies--etiology
Lipid Metabolism, Inborn Errors--blood
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Nervous System Diseases--blood
Phenotype
Phytanic Acid--blood
Racemases and Epimerases--blood
Remission Induction
Seizures--etiology
Treatment Outcome