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3-hydroxy-3-methylglutaryl-CoA lyase deficiency
(HMG)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also referred
to as HMG-CoA lyase deficiency) is an uncommon inherited disorder
in which the body cannot properly process a particular amino
acid (a building block of proteins). Additionally, the disorder
prevents the body from making ketones, which are used for energy
during fasting (periods without food). This disorder usually
appears within the first year of life. The signs and symptoms
of HMG-CoA lyase deficiency include vomiting, dehydration, extreme
tiredness (lethargy), convulsions, and coma. When episodes occur
in an infant or child, blood sugar becomes extremely low (hypoglycemia),
and harmful compounds can build up and cause the blood to become
too acidic (metabolic acidosis). These episodes are often triggered
by an infection, fasting, strenuous exercise, or sometimes other
types of stress. more >>
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