title: Urinary succinylacetone presence and delta-aminolaevulinic acid excretion in patients with type I tyrosinaemia during treatment.
abstract: In a group of 5 patients it was found that the presence of succinylacetone in urine as well as increased urinary excretion of delta-aminolaevulinic acid are a good criterion for the diagnosis of type I tyrosinaemia, and may serve for monitoring of the effectiveness of treatment with low-tyrosine diet. Determination of tyrosine levels in blood and urine by the semiquantitative method may be deceptive.
authors.affiliation: Child Health Centre Memorial Hospital, Warszawa, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
authors.forename: Z
authors.initials: Z
authors.lastname: Mielniczuk
authors.forename: E
authors.initials: E
authors.lastname: Rowińska
authors.forename: J
authors.initials: J
authors.lastname: Ksiazyk
authors.forename: M
authors.initials: M
authors.lastname: Szczygielska-Kozak
authors.forename: E
authors.initials: E
authors.lastname: Wieczorek
authors.forename: H
authors.initials: H
authors.lastname: Kulczycka
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D000622:Aminolevulinic Acid / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006537:Heptanoates / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D014443:Tyrosine / Q000378:metabolism*
chemical_list: D006537:Heptanoates; D014443:Tyrosine; C020804:succinylacetone; D000622:Aminolevulinic Acid