Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability
نویسندگان
چکیده
منابع مشابه
Inherited disorders of straight chain fatty acid oxidation.
The first inherited disorder of organic acid metabolism was described in 1966, but it is only with the improvement in laboratory facilities in recent years that the true incidence of these disorders is beginning to be appreciated. Defects in the mitochondrial oxidation of straight chain fatty acids seem to be particularly common (as inborn errors of metabolism go) even though the first example,...
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BACKGROUND Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of ...
متن کاملFatty Acid oxidation defects.
Fatty acid oxidation defects (FAODs) are a group of inborn errors of metabolism that carry a risk for morbidity and mortality. Successful management of these conditions involves early diagnosis, proper management of clinical situations that predisposes to metabolic crisis as well as adequate treatment of a metabolic crisis. The advent of tandem mass spectrometry based newborn screening has redu...
متن کاملProcessivity and fatty acid oxidation.
446 TDRAs, through the partial and group response coefficients, confirm that, under every condition that we have studied, malonyl-CoA exerts its effects over the pathway via CPT I. These conclusions apply only to our system and our conditions. Yet our TDCAs in a more physiological system, including ketone body and ATP synthesis in coupled mitochondria, show that in state 3 CPT I has most of the...
متن کاملFatty acid oxidation
Fatty acids are the preferred oxidative substrates of the heart, skeletal muscles, kidney cortex and liver in adult mammals. They are supplied to these tissues either as nonesterified fatty acids (NEFAI, or as triglycerides after hydrolysis by lipoprotein lipase. During fetal life, tissue capacity to oxidize NEFA is very low, even in species in which the placental transfer of NEFA and carnitine...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2013
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-013-9611-5