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ACADVL

From SNPedia
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# SNPs98
 Max MagnitudeChromosome positionSummary
rs105751622607,224,822
rs105751636907,221,557
rs105751637007,222,867
rs105751651907,223,823
rs105751668607,222,865
rs105751671407,221,973
rs105751681707,220,199
rs105751681807,223,643
rs105751684307,222,784
rs105751697907,220,796
rs105751701207,220,677
rs105751713007,221,537
rs105751718007,222,679
rs105751723107,222,784
rs105751728007,223,966
rs105751728107,223,196
rs105751729207,222,672
rs105751733107,223,990
rs105751738607,224,479
rs105751741607,223,168
rs105751742607,222,223
rs105751841107,224,693
rs105751850607,220,804
rs105752008807,220,945
rs105752050707,224,972
rs105752350407,223,201
rs106049959607,224,380
rs106479338207,222,810
rs106479610407,221,662
rs106479614907,221,009
rs108530764807,224,711
rs11185181507,224,245
rs11240610507,223,152
rs11369095607,223,238
rs11399416707,222,272
rs11399416807,222,203
rs11399416907,223,687
rs11399417007,224,040
rs11399417107,224,636
rs11820401407,224,966
rs11820401507,223,199
rs11820401607,223,984
rs11820401707,224,007
rs11820401807,223,707
rs13805857207,223,993
rs13883408307,223,816
rs14062931807,221,966
rs14098945007,222,866
rs14858461707,224,973
rs20057337107,222,669
... further results

Located on chromosome 17, the ACADVL gene encodes the very long-chain acyl-CoA dehydrogenase protein (VLCAD), an enzyme required to break down (metabolize) a group of fats called very long-chain fatty acids.GHR

Over 100 mutations in the ACADVL gene may lead to VLCAD deficiency, a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting) or in some cases by illness or exercise. The three clinical types of VLCAD deficiency are described (according to OMIM) as:

  • Severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
  • Milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
  • Mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis


Generally, null mutations (resulting in no protein) lead to more severe disease, while missense mutations leading to proteins with residual activity are associated with the milder childhood and adult forms. A more in-depth discussion may be found in this GeneReview.

The most common pathogenic allele, rs113994167 (c.848T>C or p.Val283Ala), is observed in symptomatic compound heterozygotes and in homozygotes; it is typically associated with the non-cardiac phenotypes and is not considered among the most severe mutations. It accounts for approximately 10-30% of all pathogenic alleles detected by newborn screening.GeneReviews