Fatty acid oxidation inherited diseases

Pollitt, R. J., 1995. Disorders of mitochondrial long-chain fatty acid oxidation. Journal of Inherited Metabolic Disease 18 473—490. 

Mitochondrial P oxidation of fatty acids is the principal source of energy for the heart. Consequently, inherited defects of fatty acid oxidation or of carnitine-assisted transport often appear as serious heart disease (inherited cardiomyopathy). These may involve heart failure, pulmonary edema, or sudden infant death. 

Roc. C. R., and Coates, P, M. 1995. Mitochondrial fatty acid oxidation disorders. In The Metabolic Basis of Inherited Diseases (7th ed., pp. 

Roe CR, Ding I. Mitochondrial fatty acid oxidation disorders. In Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York McGraw-HiU, 2001 2297-2326. 

As discussed above, the peroxisomal fatty acid P-oxidation system is specifically involved in the degradation of a specific group of fatty acids including very-long-chain fatty acids, pristanic acid and di- and trihydroxycholestanoic acid. Several inherited diseases in man have been described in which peroxisomal P-oxidationis impaired at some level as reflected in the differential acciunulation of very-long-chain fatty acids, pristanic acid and the bile acid intermediates in plasma from patients. The following disorders can be distinguished ... 

Roe, C.R. Coates, P. (1995) In The metabolic and molecular bases of inherited disease. 1501-1534 Mitoehondrial fatty acid oxidation disorders (Scriver, C, Beaudet, A.L., Sly, W.S. Valle, D. eds.) 7th ed. MGraw-Hill, New York. 

The acyl-CoA dehydrogenase deficiency diseases are a group of inherited defects that impair the /5-oxidation of fatty acids. Symptoms of the disease range from nausea and vomiting to frequent comas. Symptoms may be alleviated by eating... 

A number of inherited deficiencies of peroxisomal enzymes have been described. Zellweger s syndrome, which results from defective peroxisomal biogenesis, leads to complex developmental and metabolic phenotypes affecting principally the liver and the brain. One of the metabolic characteristics of these diseases is an elevation of C26 0, and C26 1 fatty acid levels in plasma. Refsum s disease is caused by a deficiency in a single peroxisomal enzyme, the phytanoyl CoA hydroxylase that carries out a-oxidation of phytanic acid. Symptoms include retinitis pigmentosa, cerebellar ataxia, and chronic polyneuropathy. Because phytanic acid is obtained solely from the diet, placing patients on a low-phytanic acid diet has resulted in marked improvement. 

The conclusion that peroxisomes are involved in the P-oxidation of a distinct set of fatty acids and fatty acid derivatives has largely been derived from studies in patients affected by inherited diseases in which either mitochondrial or peroxisomal p-oxidation... 

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