Defect in alpha oxidation of fatty acid leads to:
Oxidation of fatty acid - two pathway Major pathway - beta oxidation -oxidation of fatty acid at beta carbon atom and sequential removal of acetyl COA MINOR PATHWAY - a oxidation and o oxidation Refsum disease - Defect in the alpha-oxidation due to the deficiency of the enzyme phytanic acid alpha-oxidase. Phytanic acid cannot be conveed to a compound that can be degraded by beta-oxidation Cerebral ataxia and peripheral neuropathy Phytanic acid mostly found in plant .its also present in milk and dairy products so this food is restricted in patient of refsum disease Zellweger syndrome is a rare disease characterized by the absence of functional peroxisomes. The long chain fatty acids (C26-C36) are not oxidized. They accumulate in tissues, paicularly in brain, liver and kidney. Hence the disorder is also known as cerebrohepatorenal syndrome. This condition is apparent at bih and is characterized by profound neurologic impairment, victims often dying within a year. Two closely related conditions are neonatal adrenoleukodystrophy and infantile Refsum disease. Zellweger syndrome and these two conditions represent a spectrum of overlapping features, with Zellweger syndrome being the most severe (many proteins affected) and infantile Refsum disease the least severe Dicarboxylic aciduria - characterized by the excretion of C6--C10 o-dicarboxylic acids and by nonketotic hypoglycemia, and is caused by a lack of mitochondrial medium-chain acyl-CoA dehydrogenase. Jamaican vomiting sickness - caused by eating the unripe fruit of the akee tree, which contains the toxin hypoglycin. This inactivates medium and sho-chain acyl-CoA dehydrogenase, inhibiting b-oxidation and causing hypoglycemia.
Dicarboxylic aciduria
Zellweger syndrome
Jamaican vomiting sickness
Refsum disease
JIPMER 2017