scholarly journals Hereditary xanthinuria

2020 ◽  
Author(s):  
Keyword(s):  
Hereditary Xanthinuria

scholarly journals Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Cristina Collazo Abal ◽  
Susana Romero Santos ◽  
Carmen González Mao ◽  
Emilio C. Pazos Lago ◽  
Francisco Barros Angueira ◽  
...  
Keyword(s):  
Aldehyde Oxidase ◽  
Renal Calculi ◽  
Xanthine Dehydrogenase ◽  
Type I ◽  
Dietary Recommendations ◽  
New Mutation ◽  
Case Presentation ◽  
Hereditary Xanthinuria ◽  
Urine Levels ◽  
Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

scholarly journals Asymptomatic hereditary xanthinuria: A case report.

1990 ◽  
Vol 29 (3) ◽  
pp. 287-291 ◽  
Author(s):  
Akihiro NAGAE ◽  
Eiki MURAKAMI ◽  
Kunio HIWADA ◽  
Yuzuru SATO ◽  
Masanori KAWACHI ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Xanthinuria

scholarly journals 57 STUDIES ON THE METABOLISM OF PYRAZINAMIDE AND ALLOPURINOL IN PATIENTS WITH HEREDITARY XANTHINURIA

1988 ◽  
Vol 24 (1) ◽  
pp. 120-120 ◽  
Author(s):  
Kazuya Higashino ◽  
Tetsuya Yamamoto ◽  
Toshikazu Hada ◽  
Norio Kono ◽  
Masanori Kawachi ◽  
...  
Keyword(s):  
Hereditary Xanthinuria

Hereditary xanthinuria and Ehlers-Danlos syndrome

1992 ◽  
Vol 15 (6) ◽  
pp. 881-882 ◽  
Author(s):  
B. Roca ◽  
C. Calabuig ◽  
J. Sastre ◽  
M. Arenas
Keyword(s):  
Ehlers Danlos Syndrome ◽  
Hereditary Xanthinuria ◽  
Danlos Syndrome

scholarly journals EFFECT OF FRUCTOSE INFUSION IN HEREDITARY XANTHINURIA EVIDENCE FOR GTP DEGRADATION: 127

1985 ◽  
Vol 19 (7) ◽  
pp. 765-765
Author(s):  
Felicitas A Mateos ◽  
Juan G Puig ◽  
Teresa H Ramos ◽  
Irving H Fox
Keyword(s):  
Hereditary Xanthinuria

Modern diagnostic approach to hereditary xanthinuria

Urolithiasis ◽  
2014 ◽  
Vol 43 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Martin Mraz ◽  
Olha Hurba ◽  
Josef Bartl ◽  
Zdenek Dolezel ◽  
Anthony Marinaki ◽  
...  
Keyword(s):  
Diagnostic Approach ◽  
Hereditary Xanthinuria

scholarly journals A family of hereditary xanthinuria: Two siblings with peptic ulcer and hypouricemia due to xanthine oxidase deficinecy, and a heterozygote(father) with gout.

1988 ◽  
Vol 77 (1) ◽  
pp. 47-52
Author(s):  
Masanori KAWACHI ◽  
Norio MONO ◽  
Ikuo MINEO ◽  
Naoko HARA ◽  
Yuya YAMADA ◽  
...  
Keyword(s):  
Peptic Ulcer ◽  
Xanthine Oxidase ◽  
Hereditary Xanthinuria

scholarly journals First case of hereditary xanthinuria in a Moroccan family

2019 ◽  
Vol 1 ◽  
Author(s):  
Aicha Ezoubeiri ◽  
Asma Labaali ◽  
Naima Fdil ◽  
Jean-François Benoist ◽  
Laila Chabaa
Keyword(s):  
Hereditary Xanthinuria ◽  
First Case ◽  
Moroccan Family
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