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

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
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

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
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
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
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
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201

Diagnosis

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
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
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
Yap S, Naughten E
J Inherit Metab Dis 1998 Oct;21(7):738-47. doi: 10.1023/a:1005445132327. PMID: 9819703
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201

Therapy

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
Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN
J Inherit Metab Dis 2019 May;42(3):424-437. Epub 2019 Apr 11 doi: 10.1002/jimd.12085. PMID: 30873612
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
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
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

Prognosis

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
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
Wilcken DE, Wilcken B
J Inherit Metab Dis 1997 Jun;20(2):295-300. doi: 10.1023/a:1005373209964. PMID: 9211201
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

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
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
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
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
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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...