HADHA: Difference between revisions

Mutations in this gene result in trifunctional protein deficiency or [[long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]]. .<ref name="entrez"/>

The most common form of the mutation is G1528C, in which the guanine at the 1528th position is changed to a cytosine. The gene mutation creates a protein deficiency that is associated with impaired oxidation of long-chain fatty acids that can lead to sudden infant death.<ref>{{cite journal|last1=IJlst|first1=L|last2=Ruiter|first2=JP|last3=Hoovers|first3=JM|last4=Jakobs|first4=ME|last5=Wanders|first5=RJ|title=Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.|journal=The Journal of clinical investigation|date=15 August 1996|volume=98|issue=4|pages=1028–33|pmid=8770876|doi=10.1172/jci118863}}</ref> Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarct of the placenta.<ref>{{cite journal|last1=Rakheja|first1=D|last2=Bennett|first2=MJ|last3=Rogers|first3=BB|title=Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review.|journal=Laboratory investigation; a journal of technical methods and pathology|date=July 2002|volume=82|issue=7|pages=815–24|pmid=12118083|doi=10.1097/01.lab.0000021175.50201.46}}</ref> <ref>{{cite journal|last1=Griffin|first1=AC|last2=Strauss|first2=AW|last3=Bennett|first3=MJ|last4=Ernst|first4=LM|title=Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition.|journal=Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|date=NaNSeptember–October 2012|volume=15|issue=5|pages=368–74|pmid=22746996|doi=10.2350/12-05-1198-oa.1}}</ref> Additionally, it has been correlated with Acute fatty liver of pregnancy (AFLP) disease. <ref>{{cite journal|last1=Ibdah|first1=JA|last2=Yang|first2=Z|last3=Bennett|first3=MJ|title=Liver disease in pregnancy and fetal fatty acid oxidation defects.|journal=Molecular genetics and metabolism|date=NaNSeptember–October 2000|volume=71|issue=1-2|pages=182–9|pmid=11001809|doi=10.1006/mgme.2000.3065}}</ref>