Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.1.1.211 extracted from

  • Park, H.D.; Kim, S.R.; Ki, C.S.; Lee, S.Y.; Chang, Y.S.; Jin, D.K.; Park, W.S.
    Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency (2009), Ann. Clin. Lab. Sci., 39, 399-404.
    View publication on PubMed

Application

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Subunits

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

Synonyms Comment Organism
mitochondrial trifunctional protein
-
Homo sapiens
MTP
-
Homo sapiens