Clinica Chimica Acta 1985-01-30

Defect in alpha-ketobutyrate metabolism: a new inborn error.

W Yang, K S Roth

Index: Clin. Chim. Acta 145(2) , 173-82, (1985)

Full Text: HTML

Abstract

A pair of siblings with clinical symptoms of cyclic vomiting and ketoacidosis were found to have a biochemical triad of normoglycemia, ketoacidosis and elevated levels of alpha-hydroxy- and alpha-aminobutyrate in plasma and urine. Methionine loading studies in both sibs produced prompt rises in plasma methionine and alpha-aminobutyrate levels, with a subsequent increase in urinary alpha-hydroxybutyrate, as well. Leukocytes from both siblings showed normal oxidation of [3-14C]propionate. Increased inorganic sulfate excretion after methionine loading implied an intact transsulfuration pathway in both siblings. On the basis of the studies detailed in this report, we conclude that these siblings suffer from a defect in alpha-ketobutyrate oxidation, a newly described defect of organic acid metabolism.

Related Compounds

  • L(+)-2-Aminobutyr...
  • 2-Oxobutyric acid

Related Articles:

Urinary and plasma organic acids and amino acids in chronic fatigue syndrome.

2005-11-01

[Clin. Chim. Acta 361(1-2) , 150-8, (2005)]

Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption.

2001-07-01

[J. Clin. Gastroenterol. 33(1) , 36-40, (2001)]

Highly sensitive GC/MS/MS method for quantitation of amino and nonamino organic acids.

2011-04-01

[Anal. Chem. 83(7) , 2705-11, (2011)]

Diagnostic use of cerebral and extracerebral oxysterols.

2004-02-01

[Clin. Chem. Lab Med. 42(2) , 186-91, (2004)]

Plasma amino acid profile on nocturnal hemodialysis.

2000-01-01

[Blood Purif. 18(2) , 97-102, (2000)]

More Articles...