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Liver disease in pregnancy.
Fatty acid oxidation disorders.
The normal process of mitochondrial fatty acid beta-oxidation is addressed and the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date are discussed.
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.
- D. Kurtz, P. Rinaldo, P. A. Wood
- BiologyProceedings of the National Academy of Sciences…
- 22 December 1998
The results demonstrate the crucial roles of mitochondrial FAO and LCAD in vivo and show frequent gestational loss in mice model of LCAD deficiency with severely impaired FAO.
An analysis of the scientific literature on the effectiveness of newborn screening, using a two-tiered approach, to delineate the best evidence for screening for specified conditions and develop recommendations focused on newborn screening.
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
The severe consequences of its malfunctioning indicate an important role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism.
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
Women with acute liver disease during pregnancy may have a Glu474Gln mutation in long-chain hydroxyacyl-CoA dehydrogenase, which means their infants are at risk for hypoketotic hypoglycemia and fatty liver.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women
A small number of women diagnosed with acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) also have low iron levels, which are normal during pregnancy.
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA, which has significant consequences for patient management and counseling.