Hawkinsinuria


Hawkinsinuria (4-Hydroxyphenylpyruvate Hydroxylase Deficiency) is an autosomal dominant disease caused by a mutation in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. A deficiency in this enzyme results in accumulation of hawkinsin in urine and plasma; cis-4-hydroxycyclohexylacetic acid, trans-4-hydroxycyclohexylaceid, vanillactic acid, 4-hydroxyphenylpyruvic acid, pyroglutamic acid in urine; and L-tyrosine in plasma. Symptoms include ketosis, metabolic acidosis, swimming-pool odor, and mental retardation. Treatment includes a low-protein diet and vitamin C.

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References

  1. Uniprot: P32754
  2. OMIM: Entry 140350
  3. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 55) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  4. Borden M, Holm J, Leslie J, Sweetman L, Nyhan WL, Fleisher L, Nadler H, Lewis D, Scott CR: Hawkinsinuria in two families. Am J Med Genet. 1992 Sep 1;44(1):52-6. Pubmed
  5. Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F: Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. Pubmed
  6. Wilcken B, Hammond JW, Howard N, Bohane T, Hocart C, Halpern B: Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N Engl J Med. 1981 Oct 8;305(15):865-8. Pubmed