title: Hyperammonaemia with distal renal tubular acidosis.
abstract: The case is reported of an infant with hyperammonaemia secondary to severe distal renal tubular acidosis. A clinical association between increased concentrations of ammonia in serum and renal tubular acidosis has not previously been described. In response to acidosis the infant's kidneys presumably increased ammonia synthesis but did not excrete ammonia, resulting in hyperammonaemia. The patient showed poor feeding, frequent vomiting, and failure to thrive, but did not have an inborn error of metabolism. This case report should alert doctors to consider renal tubular acidosis in the differential diagnosis of severely ill infants with metabolic acidosis and hyperammonaemia.
authors.affiliation: Department of Pediatrics, University of Rochester School of Medicine, NY 14642, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Miller
authors.forename: G J
authors.initials: GJ
authors.lastname: Schwartz
mesh_terms: D000141:Acidosis, Renal Tubular / Q000097:blood* / Q000150:complications; D000641:Ammonia / Q000097:blood*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D009397:Nephrocalcinosis / Q000000981:diagnostic imaging / Q000209:etiology; D014463:Ultrasonography
chemical_list: D000641:Ammonia