Literature summary extracted from

Touw, C.M.; Smit, G.P.; Niezen-Koning, K.E.; Bosgraaf-de Boer, C.; Gerding, A.; Reijngoud, D.J.; Derks, T.G.
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes (2013), Orphanet J. Rare Dis., 8, 43 .

Application

EC Number	Application	Comment	Organism
1.3.8.7	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

EC Number	Organism	UniProt	Comment	Textmining
1.3.8.7	Homo sapiens	-	-	-

Synonyms

EC Number	Synonyms	Comment	Organism
1.3.8.7	ACADM	-	Homo sapiens

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Release 2023.1 (January 2023)