title: Fanconi syndrome in a patient with a variant of isovaleric acidemia.
abstract: Fanconi syndrome with proximal renal tubular acidosis is caused by a variety of anatomic, functional and metabolic disorders. We report a patient with a variant of isovaleric acidosis who developed proximal tubular acidosis. This patient was able to acidify the urine during metabolic acidosis, developed a hyperchloremic metabolic acidosis, and needed 24 mEq/kg/day of bicarbonate to maintain normal serum bicarbonate. She had a FE Bicarbonate of 12 +/- 4% during bicarbonate infusion. Isovaleric acidosis may be another toxic cause of proximal RTA.
mesh_terms: D000138:Acidosis / Q000150:complications* / Q000378:metabolism / Q000628:therapy; D000141:Acidosis, Renal Tubular / Q000150:complications / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D005198:Fanconi Syndrome / Q000150:complications* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D007223:Infant; D007677:Kidney Function Tests; D007687:Kidney Tubules, Proximal / Q000503:physiopathology; D010421:Pentanoic Acids / Q000097:blood*; D014631:Valerates / Q000097:blood*
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; D014631:Valerates; C008216:isovaleric acid