3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency is a rare condition that affects the body's ability to make ketone bodies, which are an important source of energy during stress or fasting. It is inherited in an autosomal recessive pattern, meaning that both parents carry a copy of the gene change. Most episodes happen during times of stress such as gastroenteritis or fasting, and these episodes can include symptoms like vomiting and lethargy. In many cases, people are generally well between these acute episodes. Because the condition can lead to dangerously low blood sugar levels (non ketotic hypoglycemia) and other complications like an enlarged liver, early diagnosis is essential. Recognizing the signs during an acute episode is crucial in order to manage the condition and prevent severe outcomes, which in rare instances can include coma or even death.

People with this condition often experience episodes of vomiting, tiredness, and an enlarged liver during times of stress or illness. One of the key signs during these episodes is non ketotic hypoglycemia, which means that blood sugar levels drop without the increase in ketone bodies usually seen in fasting states. In rare cases, these episodes can become very severe and may lead to coma.

The condition is caused by changes in the HMGCS2 gene. It is inherited in an autosomal recessive manner, which means that a child must receive a faulty copy of this gene from both parents to develop the condition. This genetic change interferes with the normal production of ketone bodies, leading to the symptoms seen during episodes of metabolic stress.

Information about treatment is currently limited for this condition.

The outlook for people with this condition largely depends on early diagnosis and proper management during acute episodes. When the condition is identified early and episodes are managed promptly, affected individuals may have a better quality of life. However, if hypoglycemic crises are not managed in a timely manner, there can be serious complications, including brain damage and death.

Information about research is currently limited for this condition.