Disorders of lipid metabolism

摘要: Abstract 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 the biochemical steps pathway. They manifest with spectrum clinical phenotypes, including progressive lipid storage myopathy, rhabdomyolysis paroxysmal myoglobinuria, peripheral neuropathy, cardiomyopathy, hypoglycemic hypoketotic encephalopathy, seizures, and mental retardation. are potentially rapidly fatal source major morbidity. Early recognition prompt institution therapy appropriate preventive measures may be life-saving significantly decrease long-term morbidity, CNS sequelae. The diagnosis is based on finding accumulation specific markers such as acylcarnitines blood urinary dicarboxylic acids acylglycines. Confirmatory testing requires enzymatic studies DNA analysis. Newborn screening mass spectrometry analysis has enhanced early these disorders, allowing identification many affected patients before onset symptoms.