Urinary succinylacetone presence and delta-aminolaevulinic acid excretion in patients with type I tyrosinaemia during treatment.
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.
Pronicka
E
E
Child Health Centre Memorial Hospital, Warszawa, Poland.
Mielniczuk
Z
Z
Rowińska
E
E
Ksiazyk
J
J
Szczygielska-Kozak
M
M
Wieczorek
E
E
Kulczycka
H
H
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*
D006537:Heptanoates; D014443:Tyrosine; C020804:succinylacetone; D000622:Aminolevulinic Acid