Application | Comment | Organism |
---|---|---|
medicine | analysis of variant enzymes identified in newborns. Enzyme analyses with hexanoyl-CoA, hexanoyl-CoA + butanoyl-CoA, and phenylpropionyl-CoA show significantly higher residual medium-chain acyl-CoA dehydrogenase activities in subjects with variant ACADM genotypes when compared to patients with classical ACADM genotypes. After prolonged fasting no hypoglycaemia is observed. Increasing concentrations of free fatty acids indicate lipolysis, and ketone body concentrations are sufficient for blood glucose concentrations in 5 out of 6 subjects. Phenylpropionic acid loading demonstrates in vivo residual enzyme activity in all studied subjects | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
ACADM | - |
Homo sapiens |