U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Homocystinuria, pyridoxine-nonresponsive

MedGen UID:
865745
•Concept ID:
C4017308
•
Finding
Synonym: HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
 
OMIM®: 613381

Professional guidelines

PubMed

Taurine alleviates repression of betaine-homocysteine S-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine β-synthase-deficient homocystinuria.
Maclean KN, Jiang H, Phinney WN, Keating AK, Hurt KJ, Stabler SP
FASEB J 2019 May;33(5):6339-6353. Epub 2019 Feb 15 doi: 10.1096/fj.201802069RR. PMID: 30768359
The natural history of vascular disease in homocystinuria and the effects of treatment.
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201

Recent clinical studies

Etiology

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D
J Inherit Metab Dis 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. PMID: 15617186
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Yap S, Rushe H, Howard PM, Naughten ER
J Inherit Metab Dis 2001 Aug;24(4):437-47. doi: 10.1023/a:1010525528842. PMID: 11596648
B vitamins and homocysteine in cardiovascular disease and aging.
Wilcken DE, Wilcken B
Ann N Y Acad Sci 1998 Nov 20;854:361-70. doi: 10.1111/j.1749-6632.1998.tb09916.x. PMID: 9928444
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Yap S, Naughten E
J Inherit Metab Dis 1998 Oct;21(7):738-47. doi: 10.1023/a:1005445132327. PMID: 9819703
The natural history of vascular disease in homocystinuria and the effects of treatment.
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201

Diagnosis

Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.
Yadav PK, Xie P, Banerjee R
J Biol Chem 2012 Nov 2;287(45):37611-20. Epub 2012 Sep 12 doi: 10.1074/jbc.M112.414706. PMID: 22977242Free PMC Article
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP
J Inherit Metab Dis 2002 Aug;25(4):299-314. doi: 10.1023/a:1016502408305. PMID: 12227460
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Yap S, Rushe H, Howard PM, Naughten ER
J Inherit Metab Dis 2001 Aug;24(4):437-47. doi: 10.1023/a:1010525528842. PMID: 11596648
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Yap S, Naughten E
J Inherit Metab Dis 1998 Oct;21(7):738-47. doi: 10.1023/a:1005445132327. PMID: 9819703
The natural history of vascular disease in homocystinuria and the effects of treatment.
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201

Therapy

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.
Uygur E, Aktuglu-Zeybek C, Aghalarov M, Cansever MS, Kıykım E, Zubarioglu T
Nutrients 2023 Jul 11;15(14) doi: 10.3390/nu15143105. PMID: 37513523Free PMC Article
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D
J Inherit Metab Dis 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. PMID: 15617186
B vitamins and homocysteine in cardiovascular disease and aging.
Wilcken DE, Wilcken B
Ann N Y Acad Sci 1998 Nov 20;854:361-70. doi: 10.1111/j.1749-6632.1998.tb09916.x. PMID: 9928444
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE
Hum Mol Genet 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857. PMID: 7506602
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics.
Kang SS, Wong PW, Curley K
Pediatr Res 1982 May;16(5):370-2. doi: 10.1203/00006450-198205000-00010. PMID: 7099755

Prognosis

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD
Mol Genet Genomic Med 2018 Mar;6(2):160-170. Epub 2018 Jan 20 doi: 10.1002/mgg3.342. PMID: 29352562Free PMC Article
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
Sasai H, Shimozawa N, Asano T, Kawamoto N, Yamamoto T, Kimura T, Kawamoto M, Matsui E, Fukao T
Tohoku J Exp Med 2015 Dec;237(4):323-7. doi: 10.1620/tjem.237.323. PMID: 26639091
The natural history of vascular disease in homocystinuria and the effects of treatment.
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB
Eur J Hum Genet 1997 Jan-Feb;5(1):15-21. PMID: 9156316

Clinical prediction guides

Taurine alleviates repression of betaine-homocysteine S-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine β-synthase-deficient homocystinuria.
Maclean KN, Jiang H, Phinney WN, Keating AK, Hurt KJ, Stabler SP
FASEB J 2019 May;33(5):6339-6353. Epub 2019 Feb 15 doi: 10.1096/fj.201802069RR. PMID: 30768359
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP
J Inherit Metab Dis 2002 Aug;25(4):299-314. doi: 10.1023/a:1016502408305. PMID: 12227460
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V
Am J Hum Genet 1995 Jul;57(1):34-9. PMID: 7611293Free PMC Article
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE
Hum Mol Genet 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857. PMID: 7506602
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics.
Kang SS, Wong PW, Curley K
Pediatr Res 1982 May;16(5):370-2. doi: 10.1203/00006450-198205000-00010. PMID: 7099755

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...