Molybdenum cofactor deficiency [DS:
Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Hereditary xanthinuria is classified into three categories. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.
Congenital disorder of metabolism
Human diseases [BR:
Congenital disorders of metabolism
Congenital disorders of nucleotide metabolism
Human diseases in ICD-11 classification [BR:
05 Endocrine, nutritional or metabolic diseases
Inborn errors of metabolism
5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism
Sulfur relay system
Molybdenum cofactor biosynthesis
XDH deficiency in hypoxanthine oxidation
MOCOS deficiency in molybdenum cofactor biosynthesis
(XAN1) XDH [HSA:
(XAN2) MOCOS [HSA:
Sebesta I, Stiburkova B, Krijt J
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Nucleosides Nucleotides Nucleic Acids 37:324-328 (2018)
Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
Metabolism 52:1501-4 (2003)
Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H
XDH gene mutation is the underlying cause of classical xanthinuria: a second report.
Kidney Int 57:2215-20 (2000)
Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
J Clin Invest 99:2391-7 (1997)
» Japanese version
integrated database retrieval system