Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.1992 · 47 citations
2. 2Molecular basis of inherited medium‐chain acyl‐CoA dehydrogenase deficiency causing sudden child death1991 · 51 citations
3. 3Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.1990 · 102 citations