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Homocystinuria, pyridoxine-responsive

MedGen UID:
502509
•Concept ID:
C3502110
•
Disease or Syndrome
Synonym: Homocystinuria, Pyridoxine-Responsive
 
OMIM®: 613381

Professional guidelines

PubMed

Newborn screening for homocystinuria.
Snyderman SE, Sansaricq C
Early Hum Dev 1997 Apr 25;48(1-2):203-7. doi: 10.1016/s0378-3782(96)01860-9. PMID: 9131320

Recent clinical studies

Etiology

Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N, Ning Y, Zheng H, Zhao L, Qian X, Wormington C, Wang J
BMC Ophthalmol 2021 May 13;21(1):212. doi: 10.1186/s12886-021-01974-8. PMID: 33985475Free PMC Article
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX, Li XY, Dong H, Liu YP, Ding Y, Song JQ, Jin Y, Zhang Y, Wang Q, Yang YL
World J Pediatr 2018 Apr;14(2):197-203. Epub 2018 Mar 5 doi: 10.1007/s12519-018-0135-9. PMID: 29508359
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E
J Inherit Metab Dis 2018 Jan;41(1):109-115. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0094-7. PMID: 28980096Free 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
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Wilcken DE, Dudman NP, Tyrrell PA
Metabolism 1985 Dec;34(12):1115-21. doi: 10.1016/0026-0495(85)90156-8. PMID: 3934499

Diagnosis

Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N, Ning Y, Zheng H, Zhao L, Qian X, Wormington C, Wang J
BMC Ophthalmol 2021 May 13;21(1):212. doi: 10.1186/s12886-021-01974-8. PMID: 33985475Free PMC Article
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E
J Inherit Metab Dis 2018 Jan;41(1):109-115. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0094-7. PMID: 28980096Free 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
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.
Bass HN, LaGrave D, Mardach R, Cederbaum SD, Fuster CD, Chetty M
J Inherit Metab Dis 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649. PMID: 9427154
Newborn screening for homocystinuria.
Snyderman SE, Sansaricq C
Early Hum Dev 1997 Apr 25;48(1-2):203-7. doi: 10.1016/s0378-3782(96)01860-9. PMID: 9131320

Therapy

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.
Bass HN, LaGrave D, Mardach R, Cederbaum SD, Fuster CD, Chetty M
J Inherit Metab Dis 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649. PMID: 9427154
Pyridoxine-responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boy.
Hou JW, Wang TR
J Inherit Metab Dis 1994;17(6):759. doi: 10.1007/BF00712025. PMID: 7707706
Pyridoxine responsive and unresponsive homocystinuria.
Kraus JP, Kozich V
J Nutr Sci Vitaminol (Tokyo) 1992;Spec No:589-92. doi: 10.3177/jnsv.38.special_589. PMID: 1297819
Pyridoxine-responsive homocystinuria.
Nutr Rev 1981 Jan;39(1):16-8. doi: 10.1111/j.1753-4887.1981.tb06704.x. PMID: 7012699
Studies of the mechanism of pyridoxine-responsive homocystinuria.
Seashore MR, Durant JL, Rosenberg LE
Pediatr Res 1972 Mar;6(3):187-96. doi: 10.1203/00006450-197203000-00007. PMID: 5046976

Prognosis

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Ames EG, Scott AJ, Pappas KB, Moloney SM, Conway RL, Ahmad A
Am J Med Genet A 2020 Nov;182(11):2704-2708. Epub 2020 Aug 20 doi: 10.1002/ajmg.a.61815. PMID: 32820583
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX, Li XY, Dong H, Liu YP, Ding Y, Song JQ, Jin Y, Zhang Y, Wang Q, Yang YL
World J Pediatr 2018 Apr;14(2):197-203. Epub 2018 Mar 5 doi: 10.1007/s12519-018-0135-9. PMID: 29508359
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Magner M, Krupková L, Honzík T, Zeman J, Hyánek J, Kožich V
J Inherit Metab Dis 2011 Feb;34(1):33-7. Epub 2010 Jun 22 doi: 10.1007/s10545-010-9146-y. PMID: 20567906Free PMC Article
Newborn screening for homocystinuria: Irish and world experience.
Naughten ER, Yap S, Mayne PD
Eur J Pediatr 1998 Apr;157 Suppl 2:S84-7. doi: 10.1007/pl00014310. PMID: 9587032
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

Clinical prediction guides

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX, Li XY, Dong H, Liu YP, Ding Y, Song JQ, Jin Y, Zhang Y, Wang Q, Yang YL
World J Pediatr 2018 Apr;14(2):197-203. Epub 2018 Mar 5 doi: 10.1007/s12519-018-0135-9. PMID: 29508359
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E
J Inherit Metab Dis 2018 Jan;41(1):109-115. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0094-7. PMID: 28980096Free 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
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

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