[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].
The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010105:Oxygenases / Q000172:deficiency*; D010375:Pedigree; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D010105:Oxygenases; D015111:4-Hydroxyphenylpyruvate Dioxygenase
Association, chez le même sujet, d'une deletion du bras court du chromosome 4 (4p-) et d'un deficit complet en parahydroxyphenylpyruvate oxydase hépatique (tyrosinose).