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Pathway Description
beta-Aminoisobutyric Aciduria
Homo sapiens
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
[Metagen: UREIDOPROPIONASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=453)
[OMIM: 210100](http://omim.org/entry/210100})
DE GROUCHY J, SUTTON HE: A genetic study of beta-aminoisobutyric acid excretion. Am J Hum Genet. 1957 Mar;9(1):76-80.
Pubmed: 13410902
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.
Schnuck JK, Sunderland KL, Kuennen MR, Vaughan RA: Characterization of the metabolic effect of beta-alanine on markers of oxidative metabolism and mitochondrial biogenesis in skeletal muscle. J Exerc Nutrition Biochem. 2016 Jun;20(2):34-41. doi: 10.20463/jenb.2016.06.20.2.5. Epub 2016 Jun 30.
Pubmed: 27508152
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