Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

Christensen, M

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. [electronic resource] - Journal of inherited metabolic disease Apr 2007 - 248-55 p. digital

Publication Type: Case Reports; Journal Article

1573-2665

10.1007/s10545-007-0396-2 doi


Adenine
Alanine
Amino Acid Metabolism, Inborn Errors--genetics
Amino Acid Substitution
Child
DNA Mutational Analysis
Genotype
Guanine
Homozygote
Humans
Hydrolases--deficiency
Male
Mutation
Pedigree
Threonine
Xanthurenates--urine