A VARIANT FORM OF 2‐METHYL‐3‐HYDROXYBUTYRIC AND 2‐METHYLACETOACETIC ACIDURIA

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Abstract
A new case of assumed .beta.-ketothiolase deficiency with excretion of 2-methyl-3-hydroxybutyrate and tiglylglycine is described in a 15 yr old boy. The patient presented with episodes of metabolic acidosis following intercurrent infections in early childhood. After the age of 7 yr he had periods of headache, but no acidotic episodes occurred even during infections. Systematic dietary treatment was not instituted, and the patient is physically and mentally normal. This indicates a mild variant of the .beta.-kethothiolase deficiency. Diagnosis of the condition may be obscured by large quantities of ordinary ketone bodies, and requires gas chromatographic and mass spectrometric techniques.