3-hydroxy-3-methylglutaric aciduria is an autosomal recessive genetic disorder due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycemia, hypotonia and vomiting triggered by periods of fasting or infections. The acetoacetic acid test is negative and ammonemia and liver functions are often disturbed, leading to the possible confusion with Reye's syndrome. Formal diagnosis relies on the chromatography of urinary organic acids and plasmatic acyl-carnitines that evidences the absence of ketone bodies and the presence of characteristic organic components. Prophylactic measures include avoiding periods of fasting, following a diet with moderately limited intake of protein, and glucose solution I.V. in case of acute bouts.Chronic supplementation of 3-hydroxybutyrate was successful In only one case.
Last update: March 2004