Palladino et al., "Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase
deficiency involves activation of glutamate dehydrogenase," The Journal of Biological Chemistry, vol.
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
. Orphanet J Rare Dis 2012;7:25.
"In 2008 my son, Christopher, was picked up by newborn screening with a rare inherited disorder called LCHAD (long-chain "3-hydroxyacyl-CoA dehydrogenase
deficiency) where his body cannot breakdown long-chain fatty acids.
Dietary Management of long-chain 3-hydroxyacyl-CoA dehydrogenase
The enzymes for the b-oxidation oflong- to mediumchain fatty acids (C-18 to C-12) are located close to the inner mitochondrial membrane, they are: very-longchain acyl-CoA dehydrogenase, long-chain enoyl-CoA hydratase, long-chain L 3-hydroxyacyl-CoA dehydrogenase
and long-chain 3-ketoacyl-CoA thiolase.
Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-Enoyl-CoA hydratase, 3-Hydroxyacyl-CoA dehydrogenase
, and [[DELTA].sup.3],[[DELTA].sup.2]-Enoyl-CoA isomerase activities.
Likewise, enzyme activities of 3-hydroxyacyl-CoA dehydrogenase
and carnityl palmitoyl-CoA transferase are good indicators of lipid metabolism.
Mutations in 6 genes have been associated with HI (Table 1): the sulfonylurea receptor 1 (SUR-1; encoded by ABCC8)  (6); potassium inward rectifying channel (Kir6.2; 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
In our previous research using comparative proteomic techniques, we observed that the expression of acetyl-Coenzyme A acetyltransferase 2 and 3-hydroxyacyl-CoA dehydrogenase
type-2, those enzymes involved in fatty acid degradation, were decreased in the liver tissues of ketotic cows, which suggested that the ability to utilize fatty acids to produce C[O.sub.2], [H.sub.2]O and ATP was decreased (Xu and Wang, 2008).
(35.) PRZYREMBEL, H; JAKOBS, C; IJLST, L; DE KLERK, J.B.C.; WANDERS, R.J.A; Long-chain 3-hydroxyacyl-CoA dehydrogenase
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).