Which enzyme is defective in refsum’s disease? (AIIMS Nov 2009)
|A||Phytanic acid oxidase|
2. Retinitis pigmentosa presenting as night blindness often precedes the onset of neuropathy.
3. Thickened skin (ichthyosis), syndactyly and shortening of the fourth toe, cardiomyopathy, and cataracts are other features.
4. CSF protein is typically elevated.
5. Abnormally high plasma and urinary levels of phytanic acid are diagnostic.