- Metabolite
- HMDB0000595 (Hydrogen carbonate)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 6300-19500 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Renal tubular acidosis, distal, RTA type 1
References
- Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP: Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. [PubMed:9600966 ]