Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. |
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| Authors: | M D Finnie K Cottrall J W Seakins W Snedden |
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| Affiliation: | 1. Department of Chemical Pathology, Hospital for Sick Children and Institute of Child Health, 30 Guilford Street, London, WC1N 1EH UK;2. Department of Mass Spectrometry, St. Bartholomew''s Hospital, London, EC1A 7BE U.K. |
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| Abstract: | ![]()
A three-month old child, presenting with a history of feeding problems, suspected respiratory infection and failure to thrive, later developed fits and a profound irreversible metabolic acidosis. Chromatographic investigation of the urine revealed a gross excretion of 2-oxoglutaric and 3-hydroxyisovaleric acids. The identity of these two acids was confirmed by mass spectrometry. Enzyme studies on liver obtained at post-mortem demonstrated a deficiency of 3-methylcrotonyl-CoA:carbon dioxide ligase (ADP) (EC 6.4.1.4). |
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| Keywords: | Correspondence to: Dr.J.W.T. Seakins Institute of Child Health 30 Guilford Street London WC1N 1EH U.K.. |
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