HMG-CoA lyase deficiency


What are the signs and symptoms of HMG-CoA lyase deficiency?

Signs of HMG-CoA lyase deficiency usually become apparent in the first year of life. Symptoms include periods or episodes of vomiting, diarrhea, dehydration, extreme tiredness, and low muscle tone. During these episodes, blood sugar levels can drop very low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If this condition is not treated, it can lead to breathing problems, seizures, coma, enlargement of the liver (hepatomegaly), and death. Episodes are often triggered by an infection, going too long without food, strenuous exercise, or other types of stress.


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