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A VARIANT FORM OF 2‐METHYL‐3‐HYDROXYBUTYRIC AND 2‐METHYLACETOACETIC ACIDURIA
Author(s) -
HALVORSEN S.,
STOKKE O.,
JELLUM E.
Publication year - 1979
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1979.tb04972.x
Subject(s) - medicine , metabolic acidosis , pediatrics , acidosis , ketone bodies , ketone , metabolism , chemistry , organic chemistry
. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in a 15‐year‐old boy. The patient presented with episodes of metabolic acidosis following intercurrent infections in the early childhood. After the age of 7 years he has had periods of headache, but no acidotic episodes have occurred even during infections. Systematic dietary treatment has not been instituted, and the patient is physically and mentally normal. This indicates a mild variant of the β‐ketothiolase deficiency. Diagnosis of the condition may be obscured by large quantities of ordinary ketone bodies, and requires gas chromatographic and mass spectrometry techniques.