Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
beta-Aminoisobutyric Aciduria
Mus musculus
Disease Pathway
Hyper-beta-aminoisobutyric aciduria or BAIB urinary excretion is a common, autosomal recessive condition characterized by high levels of excretion of beta-aminoisobutyric acid in the urine. It is probably the most common mendelian metabolic variant in man. BAIB is a nonprotein amino acid, but it is an end product of pyrimidine metabolism. High excretion is frequent in Pacific populations that also show a high frequency of hyperuricemia. Impairment of R-BAIB catabolism due to deficient activity of a pyruvate-requiring transaminase, namely D-beta-aminoisobutyrate:pyruvate aminotransferase. This enzyme deficiency means that high BAIB excretors have impaired ability to degrade BAIB and thymine.
References
beta-Aminoisobutyric Aciduria References
CRUMPLER HR, DENT CE, HARRIS H, WESTALL RG: beta-Aminoisobutyric acid (alpha-methyl-beta-alanine); a new amino-acid obtained from human urine. Nature. 1951 Feb 24;167(4243):307-8.
Pubmed: 14806475
beta-Alanine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000468
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings