A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria

J.M. Grasko, Amanda Hooper, J.W. Brown, C.J. Mcknight, John Burnett

    Research output: Contribution to journalArticlepeer-review

    9 Citations (Scopus)


    Alkaptonuria is a rare recessive disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme homogentisate 1,2-dioxygenase (HGD) caused by mutations in the HGD gene. We report the case of a 38 year-old male with known alkaptonuria who was referred to an adult metabolic clinic after initially presenting to an emergency department with renal colic and subsequently passing black ureteric calculi. He complained of severe debilitating lower back pain, worsening over the last few years. A CT scan revealed marked degenerative changes and severe narrowing of the disc spaces along the entire lumbar spine. Sequencing of the HGD gene revealed that he was a compound heterozygote for a previously described missense mutation in exon 13 (G360R) and a novel missense mutation in exon 3 (K57N). Lys57 is conserved among species and mutation of this residue is predicted to affect HGD protein function by interfering with substrate traffic at the active site. In summary, we describe an alkaptonuric patient and report a novel missense HGD mutation, K57N.
    Original languageEnglish
    Pages (from-to)254-56
    JournalClinica Chimica Acta
    Issue number1-2
    Publication statusPublished - 2009


    Dive into the research topics of 'A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria'. Together they form a unique fingerprint.

    Cite this