OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency, sometimes called SCHAD deficiency or HAD deficiency, is a rare inherited metabolic disorder. It is now more commonly referred to as 3-hydroxyacyl-CoA dehydrogenase deficiency or, in its most recognized form, as a cause of congenital hyperinsulinism. The condition affects the body's ability to break down certain fats for energy. Specifically, an enzyme called short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), produced by the HADH gene, does not work properly. This enzyme plays an important role in a process called fatty acid oxidation, which helps the body convert fats into usable energy, especially when food intake is low. Because this enzyme is also involved in regulating insulin release from the pancreas, people with SCHAD deficiency often experience dangerously low blood sugar levels (hypoglycemia) caused by too much insulin being released. This is known as hyperinsulinemic hypoglycemia. Symptoms can appear in newborns or infants and may include seizures, poor feeding, and unusual sleepiness. Without prompt diagnosis and treatment, repeated low blood sugar episodes can cause serious brain injury. Treatment focuses on preventing hypoglycemia through diet, medication, and careful monitoring. The word 'obsolete' in the Orphanet classification reflects updates in how this condition is named and categorized, but the disease itself is real and still recognized by specialists.

Bring these to your next appointment

• Q1.How often does my child need to eat, and what should I do if they refuse to eat or are sick?,Is diazoxide the right medication for my child, and what side effects should I watch for?,What are the signs of low blood sugar, and how should I treat it at home?,Does my child need a continuous glucose monitor, and how often should blood sugar be checked?,Are there any dietary restrictions or specific foods that help manage this condition?,What is the long-term outlook for my child's development and health?,Should other family members be tested for this condition?

Common questions about OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency