Application | Comment | Organism |
---|---|---|
medicine | case study on a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure and an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, at 0.44 nmol/ml, 3-hydroxylinoleylcarnitine, at 0.31 nmol/ml, and 3-hydroxyoleylcarnitine, at 0.51 nmol/ml. The findings suggest either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. The patient was a compound heterozygote for c.358dupT and c.1364T>G mutations. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 months after birth due to advanced cardiac failure | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Subunits | Comment | Organism |
---|---|---|
More | enzyme is part of mitochondrial trifunctional protein MTP. Mitochondrial trifunctional protein is a heterocomplex composed of 4 alpha-subunits containing long-chain 2,3-enoyl-CoA hydratase and long-chain 3-hydroxyacyl CoA dehydrogenase activity, and 4 beta-subunits that harbor long-chain 3-ketoacyl-CoA thiolase activity | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
mitochondrial trifunctional protein | - |
Homo sapiens |
MTP | - |
Homo sapiens |