Acylcarnitines in fibroblasts of patients with lonhg-chain 3-hydroxyacyl-CoA dehydrogenase
deficiency and other fatty acid oxidation disorders.
Amino acid sequence similarities of the mitochondrial short chain [[DELTA].sup.3],[[DELTA].sup.2]-Enoyl-CoA isomerase and peroxisomal multifunctional [[DELTA].sup.3],[[DELTA].sup.2]-Enoyl-CoA isomerase, 2-Enoyl-CoA hydratase, 3-Hydroxyacyl-CoA dehydrogenase
enzyme in rat liver.
Short-chain 3-hydroxyacyl-CoA dehydrogenase
deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase
: a cause of lethal myophaty and cardiomyophaty in early childhood.
Long-chain 3-hydroxyacyl-CoA dehydrogenase
: clinical presentation and follow up of 50 patients.
Five enzymes/proteins were identified as being differentially expressed in the livers of ketotic cows: expression of 3-hydroxyacyl-CoA dehydrogenase
type-2 (HCDH), acetylcoenzyme A acetyltransferase 2 (ACAT) and elongation factor Tu (EF-Tu) were down-regulated, whereas that of alpha-enolase and creatine kinase were up-regulated.
Use of proper standards enabled us to identify this signal as 3-HG, an important metabolite accumulating in glutaric aciduria type I and short-chain 3-hydroxyacyl-CoA dehydrogenase
It is important to note than increased C14 and C14:1 may be produced in other disorders as well, such as carnitine palmitoyltransferase II (CPT II), carnitine/acylcarnitine translocase (CACT), MADD, and long-chain 3-hydroxyacyl-CoA dehydrogenase
The diagnoses made were long-chain 3-hydroxyacyl-CoA dehydrogenase
deficiency (confirmed by mutation analysis), carnitine transporter defect (confirmed by cultured fibroblast fatty acid oxidation), and citrullinemia (confirmed by cultured fibroblast citrulline incorporation).
In this latter case, the pattern could mimic a long-chain 3-hydroxyacyl-CoA dehydrogenase
or a trifunctional protein deficiency profile, except for the very high excretion of ketone bodies [in fatty acid oxidation defects, ketone bodies may appear increased in urine during fasting, but the ketosis remains at an inappropriately low level and the ratio of urinary adipate to 3-hydroxybutyrate is >0.5 (14)].
Human liver long-chain 3-hydroxyacyl-CoA dehydrogenase
is a multifunctional membrane-bound [beta]-oxidation enzyme of mitochondria.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase