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2022, Number 1

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Acta Pediatr Mex 2022; 43 (1)

Homocystinuria: clinical characteristics of a cohort and care guidelines

López-Mejía L, Vela-Amieva MB, Ibarra-González I, Fernéndez-Lainez C, Belmont-Martínez L, Guillén LS, Carrillo-Nieto RI

Language: Spanish
References: 20
Page: 4-13
PDF size: 173.09 Kb.


ABSTRACT

No abstract.


REFERENCES

  1. Sacharow S, Picker J, Levy H. Homocystinuria caused by cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [Updated 2017 May]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.

  2. Kumar T, Sharma G, Singh L. Homocystinuria: Therapeutic approach. Clin Chim Acta. 2016; 458:55-62.

  3. Acosta PB (2010) Nutrition Management of patients with inherited disorders of sulfur aminoacids metabolism. In: Acosta PB (ed) Nutrition management of patients with inherited metabolic disorders. Jones and Bartlett, Sudbury, pp 237–66.

  4. Morris A, Kožich V, Santra S, Andria G, Ben-Omran T, Chakrapani A, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017; 40:49–74.

  5. García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García Cazorla A, Gómez-López L, et al. Epidemiological study of the metabolic diseases with homocystinuria in Spain. An Pediatr. 2012; 76 (3):133-9.

  6. Yap S. Homocystinuria due to cystathionine b-synthase deficiency. Orphanet enciclopedia. 2005.

  7. McCully K. Homocysteine and the pathogenesis of atherosclerosis.Expert Rev Clin Pharmacol. 2015; 8 (2): 211-19.

  8. Walter JH, Jahnke N Remmington T. Newborn screening for homocystinuria. Cochrane Database Syst Rev. 2015;(10):CD008840.

  9. Maron B, Loscalzo J. The Treatment of Hyperhomocysteinemia. Annu Rev Med. 2009; 60: 39–54.

  10. Cornejo V. Raimann E, Pérez B et al.(2017) Errores Innatos del metabolismo de los aminoácidos. In: Colombo M, Cornejo V, Raimann E. Errores Innatos del Metabolismo del niño. Editorial Universitaria pp161-163.

  11. Carbajal-Rodriguez L, Barrios-Fuentes R, Vela-Amieva M, Rodriguez-Herrera R, Zarco-Roman J. Homocistinuria: Informe de 2 pacientes. Bol Med Hosp Inftant Mex. 2006; 63 (5):326-331.

  12. Cruysberg JR, Boers GH, Trijbels JM, Deutman AF. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ. 1996; 313(7064):1037-40.

  13. Karimzadeh P, Jafari N, Alai M, Jabbehdari S, Nehad Biglari H. Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients. Iran J Child Neurol. 2015; 9(1):94-8.

  14. Shafique M, Muzaffar W, Ishaq M. The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. Int Ophthalmol. 2016; 36:79–83.

  15. Weber D, Coughlin C, Brodsky J, Lindstorm K, Ficicioglu C, Kaplan P, et al. Low Bone Mineral Density is a Common Finding in Patients with Homocystinuria. Mol Genet Metab. 2016;117(3): 351–55.

  16. Huemer M, Kožich V, Rinaldo P, Baumgartner M, Merinero B, Pasquini E, et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis.2015; 38:1007–19.

  17. Iacobazzi V, Infantino V, Castegna A, Andria G. Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues. Mol Genet Metab. 2014;113(1-2):27-33.

  18. Schiff M, Blom H. Treatment of Inherited Homocystinurias. Neuropediatrics. 2012; 43(06): 295-304.

  19. Adam S, Almeida M, Carbasius-Weber E, Champion H, Chan H, Daly A. Dietary practices in pyridoxine non-responsive homocystinuria: A European survey. Molecular Genetics and Metabolism. 2013; 110: 454–59.

  20. Mulvihill A, O'Keeffe M, Yap S, Naughten E, Howard P, Lanigan B.Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control. JAAPOS.2004;8(3):254-8




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