| Disease ID | Source | Name | Description |
| 231530 | OMIM | 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) | An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. The disease is caused by variants affecting the gene represented in this entry. |
| 609975 | OMIM | Familial hyperinsulinemic hypoglycemia 4 (HHF4) | Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. The disease is caused by variants affecting the gene represented in this entry. |