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Pathway Description
Histidinemia
Homo sapiens
Disease Pathway
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.
References
Histidinemia References
[Uniprot: P42357](http://www.uniprot.org/uniprot/P42357)
[OMIM: Entry 235800](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235800)
Stanbury, J., Wyngaarden, J., Fredrickson, D. Metabolic Basis of Inherited Disease (4th ed) (1978) p. 317-327. New York: McGraw-Hill.
Scriver, C., Beaudet, A., Sly, W., Valle, D. The Metabolic and Molecular Bases of Inherited Disease (8th ed) (2001) Vol. II:1807-1820 New York: McGraw-Hill.
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.53 Heilbronn: SPS Verlagsgesellschaft
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: 14461183
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: 14044449
Lam WK, Cleary MA, Wraith JE, Walter JH: Histidinaemia: a benign metabolic disorder. Arch Dis Child. 1996 Apr;74(4):343-6.
Pubmed: 8669938
Virmani K, Widhalm K: Histidinemia: a biochemical variant or a disease? J Am Coll Nutr. 1993 Apr;12(2):115-24.
Pubmed: 8463510
Histidine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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