Metabolism mitochondrial oxidation disorder

Inherited FAO disorders represent a rapidly expanding class of metabolic diseases. Symptoms may appear at any age, from birth to adult life, frequently leading to life-threatening episodes of metabolic decompensation after a period of inadequate caloric intake and/or intercurrent illness. Typical manifestations are hypoketotic hypoglycemia, Ever disease, cardiomyopathy, and sudden death. Table 55-4 shows a summary of known disorders of fatty add transport and mitochondrial oxidation, including information about their incidence, major clinical features and biochemical patterns, availability of prenatal diagnosis and newborn screening, and association with sudden and unexpected 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. 

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

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

Table 3.1.1 Disorders of organic acid metabolism (in alphabetical order). This table does not include disorders with primary accumulation of amino acids, disorders of mitochondrial fatty acid oxidation, or primary lactic acidemias. Co A Coenzyme A, FAD flavin adenine dinucleotide...

In this chapter we review the defects of respiratory function and DNA mutations in the mitochondrial genome and nuclear DNA underlying mitochondrial diseases and discuss the roles that oxidative stress, oxidative damage, and apoptosis may play in the pathogenesis of this group of overt metabolic disorders. The cell cultures and animal models for studies of mitochondrial diseases and potential therapies are also discussed. 

Several classes of inborn errors of metabolism in addition to inborn errors of urea synthesis can cause neonatal hyperammonemia. These include organic acidurias, fatty acid oxidation defects, amino acidopathies, and mitochondrial respiratory chain disorders. All of these disorders have a number of features in common. Labor and delivery tend to be normal, and there are no predisposing risk factors. Clinical features present after 24 h of life and are progressive. They are inherited, and thus a family history of previously affected children or neonatal deaths may be present. While most are inherited in an autosomally recessive manner, ornithine tran-scarbamoylase (OTC) deficiency is X linked, and a family history of affected males in the maternal pedigree is not uncommon. 

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