Journal of Inherited Metabolic Disease 2012-11-01

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Philippa B Mills, Emma J Footitt, Serkan Ceyhan, Paula J Waters, Cornelis Jakobs, Peter T Clayton, Eduard A Struys

文献索引：J. Inherit. Metab. Dis. 35(6) , 1031-6, (2012)

全文：HTML全文

摘要

Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.

相关化合物

  • DL-2-氨基己二酸
  • L-半胱氨酸S-硫酸...

相关文献：

Impact of gluconic fermentation of strawberry using acetic acid bacteria on amino acids and biogenic amines profile.

2015-07-01

[Food Chem. 178 , 221-8, (2015)]

Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression.

2009-02-12

[Nature 457(7231) , 910-4, (2009)]

Comparative metabolomics analysis on invigorating blood circulation for herb pair Gui-Hong by ultra-high-performance liquid chromatography coupled to quadrupole time-of-flight mass spectrometry and pattern recognition approach.

2015-03-25

[J. Pharm. Biomed. Anal. 107 , 456-63, (2015)]

Detection of autosomal dominant polycystic kidney disease by NMR spectroscopic fingerprinting of urine.

2011-06-01

[Kidney Int. 79(11) , 1244-53, (2011)]

Correlation of 3-mercaptopropionic acid induced seizures and changes in striatal neurotransmitters monitored by microdialysis.

2014-06-16

[Eur. J. Pharm. Sci. 57 , 25-33, (2014)]

更多文献...