2]-Enoyl-CoA isomerase, 2-Enoyl-CoA hydratase, 3-Hydroxyacyl-CoA dehydrogenase enzyme in rat liver.
What does HAD stand for?
HAD stands for 3-Hydroxyacyl-CoA Dehydrogenase (deficiency)
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We have 110 other meanings of HAD in our Acronym Attic
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Samples in periodicals archive:
2; encoded by KCNJ11) (7); glucokinase (GK; encoded by GCK) (8); glutamate dehydrogenase (GDH; encoded by GLUD-1) (9); short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD; encoded by HADH) (10); and ectopic expression on [beta]-cell plasma membrane of SLC16A1 [encodes monocarboxylate transporter 1 (MCT1)] (11).
The disease has been associated with a deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD).
The 3 enzymes involved are long-chain enoyl-CoA hydratase (LCEH), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and long-chain 3-ketoacyl-CoA thiolase (LCTH).
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.
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 (LCHAD) deficiency.
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.