Concentration Details

Metabolite
HMDB0000492 (Chloride ion)
Biospecimen
Blood
Status
Detected and Quantified
Data source
Referenced
Concentration
102000-140000 uM
Age
Infant (0-1 year old)
Sex
Both
Condition
Renal tubular acidosis, distal, RTA type 1
References
    1. 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 ]