Severe illness caused by the products of bacterial metabolism in a child with a short gut.
An 8-year-old boy with a short gut had six episodes of metabolic acidosis and neurological dysfunction over a 1 month period. The neurological features consisted of a depressed conscious state, confusion, aggressive behaviour, slurred speech and ataxia. The organic acid profile of urine demonstrated increased amounts of lactic, 3-hydroxypropionic, 3-hydroxyisobutyric, 2-hydroxyisocaproic, phenyllactic, 4-hydroxyphenylacetic and 4-hydroxyphenyllactic acids. Of the lactic acid 99% was D-lactic acid. The anaerobic gut flora consisted almost entirely of Lactobacilli in unusually large numbers. A course of vancomycin prevented further episodes. A urinary organic acid profile may be diagnostic when a person with a short gut develops metabolic acidosis or an unusual encephalopathy and bacterial metabolites should be considered in other patients with unusual combinations of organic acids in the urine.
D000138:Acidosis / Q000209:etiology*; D002208:Caproates / Q000652:urine; D002648:Child; D003072:Cognition Disorders / Q000209:etiology*; D003244:Consciousness Disorders / Q000209:etiology*; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D007773:Lactates / Q000652:urine; D019344:Lactic Acid / Q000031:analogs & derivatives; D008286:Malabsorption Syndromes / Q000150:complications*; D008297:Male; D010648:Phenylacetates / Q000652:urine; D010666:Phenylpropionates / Q000652:urine; D012778:Short Bowel Syndrome / Q000150:complications* / Q000382:microbiology / Q000652:urine
D002208:Caproates; D006885:Hydroxybutyrates; D007773:Lactates; D010648:Phenylacetates; D010666:Phenylpropionates; C001418:4-hydroxyphenyllactic acid; D019344:Lactic Acid; C008070:4-hydroxyphenylacetic acid; C019419:alpha-hydroxyisocaproic acid; C005434:atrolactic acid; C031601:hydracrylic acid; C020757:3-hydroxyisobutyric acid