Inherited defects in mitochondrial fatty-acid β-oxidation comprise a group of at least 18 autosomal recessive disorders characterized by distinct enzyme or transporter deficiencies that represent most of the biochemical steps in the pathway. They manifest with a spectrum of clinical phenotypes, including progressive lipid storage myopathy, rhabdomyolysis with paroxysmal myoglobinuria, peripheral neuropathy, progressive cardiomyopathy, hypoglycemic hypoketotic encephalopathy, seizures, and mental retardation. They are potentially rapidly fatal and a source of major morbidity. Early recognition and prompt institution of therapy and appropriate preventive measures may be life-saving and may significantly decrease long-term morbidity, including CNS sequelae. The diagnosis is based on finding accumulation of specific biochemical markers such as acylcarnitines in blood and urinary dicarboxylic acids and acylglycines. Confirmatory testing requires enzymatic studies and DNA analysis. Newborn screening by mass spectrometry analysis has significantly enhanced the early recognition of these disorders, allowing identification of many affected patients before the onset of symptoms.
|Title of host publication||Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition|
|Number of pages||18|
|ISBN (Print)||9780124105294, 9780124105492|
|Publication status||Published - Nov 13 2014|
- Fatty-acid oxidation
- Metabolic disease
ASJC Scopus subject areas