title: Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid.
abstract: Patients with hereditary tyrosinaemia type I (HT) excrete large amounts of succinylacetone (SA) in urine. Owing to structural resemblance of SA to delta-aminolevulinic acid (ALA), SA inhibits the second enzyme in the pathway for haeme biosynthesis, porphobilinogen synthase, resulting in increased urinary ALA excretion. We investigated the relationship between urinary SA and ALA excretions of two patients with different forms of HT (late-infantile and juvenile). In both patients the urinary SA and ALA excretions showed a more or less inverse correlation. The patient with the early-infantile form of HT had a relatively greater increase in urinary SA and ALA excretions in comparison to the patient with the juvenile form of HT. A possible explanation for this unexpected inverse correlation between the urinary excretion of SA and ALA might be a lack of intramitochondrial glycine, a substrate for delta-aminolevulinic acid synthesis. It has been reported previously that high concentrations of SA reversibly and competitively inhibit the transport of glycine through membranes.
authors.affiliation: Department of Pediatrics, University of Groningen, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Schierbeek
authors.forename: G J
authors.initials: GJ
authors.lastname: Beukeveld
authors.forename: H
authors.initials: H
authors.lastname: van Faassen
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: K
authors.initials: K
authors.lastname: Bijsterveld
authors.forename: E E
authors.initials: EE
authors.lastname: Venekamp-Hoolsema
authors.forename: B G
authors.initials: BG
authors.lastname: Wolthers
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000601:surgery / Q000652:urine*; D000622:Aminolevulinic Acid / Q000652:urine*; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D006537:Heptanoates / Q000652:urine*; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008297:Male; D014443:Tyrosine / Q000378:metabolism*
chemical_list: D006537:Heptanoates; D014443:Tyrosine; C020804:succinylacetone; D000622:Aminolevulinic Acid; D003404:Creatinine