- ... van Maldegem et al 2010c ]. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCADD may be absent ... metabolic acidosis and hypoketotic hypoglycemia characteristic of many fatty acid oxidation disorders include the following: SCAD is only needed at ...
- ... Gibson B, Sims HF, Strauss AW. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant ... PubMed Shekhawat PS, Matern D, Strauss AW. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: ...
- ... 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders. Learn more about the gene associated with 3- ... on PubMed Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol. 2002;64:477-502. doi: ...
- ... L = low; N = normal; PCD = pyruvate carboxylase deficiency Fatty acid oxidation defects (FAODs) are mitochondrial disorders caused by defective beta-oxidation of fatty acids. ...
- ... 9. [ PubMed : 25393721 ] Sharpe AJ, McKenzie M. Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) ...
- ... on PubMed Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Citation on PubMed Sims HF, ... with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S ...
- ... Wijburg FA. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003 ...
- ... 2011 May 7. Citation on PubMed Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab ...
- ... PubMed Shekhawat PS, Matern D, Strauss AW. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: ...
- ... or intercurrent illness w/lactic acidosis Hyperammonemia/hyperinsulinism Disorders of fatty acid oxidation (see MCAD deficiency ) Many AR AD XL Fasting hypoketotic hypoglycemia Myopathy &/or cardiomyopathy Acute symptoms precipitated by fasting or ... Hyperammonemia Absence of hyperinsulinism AD = ...
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