Histidinemia


Histidinemia (Histidine Ammonia-Lyase Deficiency; HAL Deficiency; Histidase Deficiency; HIS Deficiency) is an autosomal recessive disease caused by a mutation in the HAL gene which codes for hisitidine ammonia-lyase. A deficiency in this enzyme results in accumulation of L-histidine in serum, spinal fluid, and urine; histamine in plasma and urine; and imidazoleacetic acid, imidazolactic acid, and 1-methylhistamine in urine. Symptoms include organic acids in urine, mental retardation, and delayed speech development. Treatment includes a low-histamine diet.

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References

  1. Uniprot: P42357
  2. OMIM: Entry 235800
  3. Stanbury, J., Wyngaarden, J., Fredrickson, D. (1978) Metabolic Basis of Inherited Disease. (pp. 317-327) (4th ed) New York: McGraw-Hill.
  4. Scriver, C., Beaudet, A., Sly, W., Valle, D. (2001) The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (pp. 1807-1820) (8th ed) New York: McGraw-Hill.
  5. 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 56) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  6. LA DU BN, HOWELL RR, JACOBY GA, SEEGMILLER JE, ZANNONI VG: The enzymatic defect in histidinemia. Biochem Biophys Res Commun. 1962 May 11;7:398-402. Pubmed
  7. LADU BN, HOWELL RR, JACOBY GA, SEEGMILLER JE, SOBER EK, ZANNONI VG, CANBY JP, ZIEGLER LK: CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. Pediatrics. 1963 Aug;32:216-27. Pubmed
  8. Lam WK, Cleary MA, Wraith JE, Walter JH: Histidinaemia: a benign metabolic disorder. Arch Dis Child. 1996 Apr;74(4):343-6. Pubmed