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Pathway Description
Histidinemia
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-30
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
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Pubmed: 8463510
Histidine Metabolism References
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Pubmed: 15057822
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Pubmed: 9642256
Frankel A, Clarke S: PRMT3 is a distinct member of the protein arginine N-methyltransferase family. Conferral of substrate specificity by a zinc-finger domain. J Biol Chem. 2000 Oct 20;275(42):32974-82. doi: 10.1074/jbc.M006445200.
Pubmed: 10931850
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Pubmed: 15334060
Joseph DR, Sullivan PM, Wang YM, Kozak C, Fenstermacher DA, Behrendsen ME, Zahnow CA: Characterization and expression of the complementary DNA encoding rat histidine decarboxylase. Proc Natl Acad Sci U S A. 1990 Jan;87(2):733-7. doi: 10.1073/pnas.87.2.733.
Pubmed: 2300558
Characterization and expression of the complementary DNA encoding rat histidine decarboxylase. Proc Natl Acad Sci U S A. 1990 Sep;87(18):7346.
Pubmed: 2402512
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Pubmed: 1702422
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Pubmed: 1639806
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Pubmed: 11855681
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Pubmed: 1368522
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Jones DE Jr, Brennan MD, Hempel J, Lindahl R: Cloning and complete nucleotide sequence of a full-length cDNA encoding a catalytically functional tumor-associated aldehyde dehydrogenase. Proc Natl Acad Sci U S A. 1988 Mar;85(6):1782-6. doi: 10.1073/pnas.85.6.1782.
Pubmed: 2831537
Hempel J, Harper K, Lindahl R: Inducible (class 3) aldehyde dehydrogenase from rat hepatocellular carcinoma and 2,3,7,8-tetrachlorodibenzo-p-dioxin-treated liver: distant relationship to the class 1 and 2 enzymes from mammalian liver cytosol/mitochondria. Biochemistry. 1989 Feb 7;28(3):1160-7. doi: 10.1021/bi00429a034.
Pubmed: 2713359
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Pubmed: 3342060
Taylor RG, Lambert MA, Sexsmith E, Sadler SJ, Ray PN, Mahuran DJ, McInnes RR: Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyases. J Biol Chem. 1990 Oct 25;265(30):18192-9.
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Taylor RG, McInnes RR: Site-directed mutagenesis of conserved serines in rat histidase. Identification of serine 254 as an essential active site residue. J Biol Chem. 1994 Nov 4;269(44):27473-7.
Pubmed: 7961661
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000191
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