Not true about Refsum disease is?
Ans. is 'b' i.e., Lysosomal disorder * Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives.* It is an autosomal recessive inborn error of lipid metabolism characterized by toxic accumulation of phytanic acid in blood, fat and neurons.* There is a single enzyme deficiency, phytanoyl-coenzyme A hydroxylase, the gene for which (PAHX, also called PHYH) is found on chromosome 10.* It is a neurocutaneous disorder with following clinical featuresa) Retinitis pigmentosa, cataracts, and night blindness.b) Peripheral polyneuropathyc) Cerebellar ataxiad) Icthyosise) Cardiomyopathy and conduction abnormalities. ECG changes are present.f) Ichthyosis, hyperkeratosis plantaris and palmaris may be seen.g) Epiphyseal dysplasia.h) Anosmia, difficulty hearing.i) Elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells.
Autosomal recessive
Lysosomal disorder
Defective fatty acid oxidation
Neurocutaneous syndrome
Genetics