HADH Antibody

1. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes. PMID: 27181376
2. Paretic muscle in hemiparetic stroke survivors had lower HAD concentration. PMID: 26361074
3. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression PMID: 26316438
4. in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations. PMID: 26268944
5. Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. PMID: 23273570
6. Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause leucine sensitive hyperinsulinaemic hypoglycaemia. PMID: 22583614
7. Clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. PMID: 21347589
8. We recommend that HADH sequence analysis is considered in all patients with diazoxide-responsive hyperinsulinemic hypoglycemia when recessive inheritance is suspected PMID: 21252247
9. Congenital hyperinsulinism due to mutations in HNF4A and HADH. PMID: 20931292
10. SCHAD deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy PMID: 14693719
11. Unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts. PMID: 17065362
12. This case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of hyperinsulinemic hypoglycemia. PMID: 19318379
13. To investigate its function in this catalytic dyad, Glu(170) was replaced with glutamine (E170Q), and the mutant enzyme was characterized. Substrate and cofactor binding were unaffected by the mutation; E170Q exhibited diminished catalytic activity PMID: 11451959
14. Patients with the G1528C mutation of 3-hyroxyacyl-CoA dehydrogenase exhibit hepatomegaly and steatosis of the liver, as well as accumulation of fat in the myocardium, renal tubules, and skeletal muscle PMID: 9185222

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HGNC: 4799

OMIM: 231530

KEGG: hsa:3033

UniGene: Hs.438289