3-hydroxy-3- methylglutaryl-CoA lyase deficiency (HMG)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine.

Signs and Symptoms
Characteristics of this disorder generally arise within the first year of life. Signs and symptoms include vomiting, diarrhea, dehydration, lethargy, weak muscle tone, hypoglycemia. Can lead to breathing problems, convulsions, coma and death. Commonly mistaken for Reye syndrome.


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