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Inborn disorder of histidine metabolism

MedGen UID:
541342
•Concept ID:
C0268512
•
Disease or Syndrome
Synonyms: disorder of histidine metabolic process; Disorder of histidine metabolism; disorder of histidine metabolism; disturbance of histidine metabolism; histidine metabolic process disease; histidine metabolism disease; inborn disorder of histidine metabolism; inborn error of histidine metabolic process; inborn error of histidine metabolism; inborn histidine metabolic process disorder; rare inborn error of histidine metabolic process
SNOMED CT: Disorder of histidine metabolism (44176004)
 
Monarch Initiative: MONDO:0019228
Orphanet: ORPHA79181

Definition

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of histidine metabolism
Follow this link to review classifications for Inborn disorder of histidine metabolism in Orphanet.

Professional guidelines

PubMed

Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.
Alm J, Larsson A
Acta Paediatr Scand 1981 Sep;70(5):601-7. doi: 10.1111/j.1651-2227.1981.tb05753.x. PMID: 7324907
Neonatal screening tests.
Mamunes P
Pediatr Clin North Am 1980 Nov;27(4):733-51. doi: 10.1016/s0031-3955(16)33923-2. PMID: 7005846
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296

Recent clinical studies

Etiology

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.
Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM, Fantin VR, Jang HG, Jin S, Keenan MC, Marks KM, Prins RM, Ward PS, Yen KE, Liau LM, Rabinowitz JD, Cantley LC, Thompson CB, Vander Heiden MG, Su SM
Nature 2009 Dec 10;462(7274):739-44. doi: 10.1038/nature08617. PMID: 19935646Free PMC Article
Maternal histidinaemia: pregnancies and offspring outcomes.
Levy HL, Yu JJ, Waisbren SE
J Inherit Metab Dis 2004;27(2):197-204. doi: 10.1023/B:BOLI.0000028783.35805.dd. PMID: 15159650
Histidinaemia: a benign metabolic disorder.
Lam WK, Cleary MA, Wraith JE, Walter JH
Arch Dis Child 1996 Apr;74(4):343-6. doi: 10.1136/adc.74.4.343. PMID: 8669938Free PMC Article
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Pediatrics 1976 May;57(5):783-92. PMID: 940719

Diagnosis

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects.
Kodama H, Fujisawa C, Bhadhprasit W
Brain Dev 2011 Mar;33(3):243-51. Epub 2010 Nov 26 doi: 10.1016/j.braindev.2010.10.021. PMID: 21112168
Histidinemia: a biochemical variant or a disease?
Virmani K, Widhalm K
J Am Coll Nutr 1993 Apr;12(2):115-24. doi: 10.1080/07315724.1993.10718291. PMID: 8463510
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM
J Inherit Metab Dis 1993;16(4):704-15. doi: 10.1007/BF00711902. PMID: 8412016
Histidinemia and infantile autism.
Kotsopoulos S, Kutty KM
J Autism Dev Disord 1979 Mar;9(1):55-60. doi: 10.1007/BF01531292. PMID: 438113

Therapy

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Pagliarini R, Castello R, Napolitano F, Borzone R, Annunziata P, Mandrile G, De Marchi M, Brunetti-Pierri N, di Bernardo D
Cell Rep 2016 Jun 7;15(10):2292-2300. Epub 2016 May 26 doi: 10.1016/j.celrep.2016.05.014. PMID: 27239044Free PMC Article
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS, Zhang J, Healy S, Gravel RA
Mol Genet Metab 2009 Dec;98(4):338-43. Epub 2009 Aug 3 doi: 10.1016/j.ymgme.2009.07.014. PMID: 19700356
Liquid growth hormone: preservatives and buffers.
Kappelgaard AM, Bojesen A, Skydsgaard K, Sjögren I, Laursen T
Horm Res 2004;62 Suppl 3:98-103. doi: 10.1159/000080507. PMID: 15539807
Homocarnosinosis: influence of dietary restriction of histidine.
Lunde HA, Gjessing LR, Sjaastad O
Neurochem Res 1986 Jun;11(6):825-38. doi: 10.1007/BF00965207. PMID: 3736769
Congenital and acquired disturbances of histidine metabolism.
Arakawa T
Clin Endocrinol Metab 1974 Mar;3(1):17-35. doi: 10.1016/s0300-595x(74)80023-x. PMID: 4154152

Prognosis

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D
Mol Genet Genomic Med 2017 Nov;5(6):795-799. Epub 2017 Sep 11 doi: 10.1002/mgg3.333. PMID: 29178637Free PMC Article
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348
Maternal histidinaemia: pregnancies and offspring outcomes.
Levy HL, Yu JJ, Waisbren SE
J Inherit Metab Dis 2004;27(2):197-204. doi: 10.1023/B:BOLI.0000028783.35805.dd. PMID: 15159650
Histidinaemia: a benign metabolic disorder.
Lam WK, Cleary MA, Wraith JE, Walter JH
Arch Dis Child 1996 Apr;74(4):343-6. doi: 10.1136/adc.74.4.343. PMID: 8669938Free PMC Article

Clinical prediction guides

The self-assembly of L-histidine might be the cause of histidinemia.
Ajikumar A, Premkumar AKN, Narayanan SP
Sci Rep 2023 Oct 14;13(1):17461. doi: 10.1038/s41598-023-44749-5. PMID: 37838762Free PMC Article
Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders.
Caruso G, Caraci F, Jolivet RB
Prog Neurobiol 2019 Apr;175:35-53. Epub 2018 Dec 26 doi: 10.1016/j.pneurobio.2018.12.004. PMID: 30593839
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D
Mol Genet Genomic Med 2017 Nov;5(6):795-799. Epub 2017 Sep 11 doi: 10.1002/mgg3.333. PMID: 29178637Free PMC Article
Liquid growth hormone: preservatives and buffers.
Kappelgaard AM, Bojesen A, Skydsgaard K, Sjögren I, Laursen T
Horm Res 2004;62 Suppl 3:98-103. doi: 10.1159/000080507. PMID: 15539807
Histidinemia: a biochemical variant or a disease?
Virmani K, Widhalm K
J Am Coll Nutr 1993 Apr;12(2):115-24. doi: 10.1080/07315724.1993.10718291. PMID: 8463510

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