Homocystinuria. Reduced Folate Levels During Pyridoxine Treatment

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 1973 Jan 1

PMID 4685596

Citations 4

Authors

B Wilcken

B Turner

Affiliations

Soon will be listed here.

Citing Articles

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris A, Kozich V, Santra S, Andria G, Ben-Omran T, Chakrapani A J Inherit Metab Dis. 2016; 40(1):49-74.

PMID: 27778219 PMC: 5203861. DOI: 10.1007/s10545-016-9979-0.

Mechanistic insights into folic acid-dependent vascular protection: dihydrofolate reductase (DHFR)-mediated reduction in oxidant stress in endothelial cells and angiotensin II-infused mice: a novel HPLC-based fluorescent assay for DHFR activity.

Gao L, Chalupsky K, Stefani E, Cai H J Mol Cell Cardiol. 2009; 47(6):752-60.

PMID: 19660467 PMC: 2784291. DOI: 10.1016/j.yjmcc.2009.07.025.

The natural history of vascular disease in homocystinuria and the effects of treatment.

Wilcken D, Wilcken B J Inherit Metab Dis. 1997; 20(2):295-300.

PMID: 9211201 DOI: 10.1023/a:1005373209964.

Homocystinuria in New South Wales.

Wilcken B, Turner G Arch Dis Child. 1978; 53(3):242-5.

PMID: 646432 PMC: 1545146. DOI: 10.1136/adc.53.3.242.

References

Spaeth G, Barber G . Homocystinuria. In a mentally retarded child and her normal cousin. Trans Am Acad Ophthalmol Otolaryngol. 1965; 69(5):912-30. View

GERRITSEN T, VAUGHN J, WAISMAN H . The identification of homocystine in the urine. Biochem Biophys Res Commun. 1962; 9:493-6. DOI: 10.1016/0006-291x(62)90114-6. View

Perry T, Hansen S, Love D, Crawford L, TISCHLER B . Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet. 1968; 2(7566):474-8. DOI: 10.1016/s0140-6736(68)90646-6. View

Hollowell Jr J, Coryell M, HALL W, Findley J, Thevaos T . Homocystinuria as affected by pyridoxine, folic acid, and vitamin B12. Proc Soc Exp Biol Med. 1968; 129(2):327-33. DOI: 10.3181/00379727-129-33314. View

CARSON N, Neill D . Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child. 1962; 37:505-13. PMC: 2012909. DOI: 10.1136/adc.37.195.505. View

Carey M, Fennelly J, FitzGerald O . Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy. Am J Med. 1968; 45(1):26-31. DOI: 10.1016/0002-9343(68)90004-1. View

Sardharwalla I, Jackson S, Hawke H, Sass-Kortsak A . Homocystinuria: a study with low-methionine diet in three patients. Can Med Assoc J. 2010; 99(15):731-40. PMC: 1945342. View

Mudd S, Finkelstein J, IRREVERRE F, LASTER L . HOMOCYSTINURIA: AN ENZYMATIC DEFECT. Science. 1964; 143(3613):1443-5. DOI: 10.1126/science.143.3613.1443. View

Perry T, Dunn H, Hansen S, MacDougall L, Warrington P . Early diagnosis and treatment of homocystinuria. Pediatrics. 1966; 37(3):502-5. View

10.

McCully K . Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis. Am J Pathol. 1970; 59(1):181-94. PMC: 2032855. View

11.

Reynolds E . Mental effects of anticonvulsants, and folic acid metabolism. Brain. 1968; 91(2):197-214. DOI: 10.1093/brain/91.2.197. View

12.

CARSON N, Carre I . Treatment of homocystinuria with pyridoxine. A preliminary study. Arch Dis Child. 1969; 44(235):387-92. PMC: 2020308. DOI: 10.1136/adc.44.235.387. View

13.

MOLLER J, Davachi F, Anderson R . Atrial flutter in infancy. J Pediatr. 1969; 75(4):643-51. DOI: 10.1016/s0022-3476(69)80461-0. View

14.

Mudd S, Edwards W, Loeb P, Brown M, LASTER L . Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. J Clin Invest. 1970; 49(9):1762-73. PMC: 322660. DOI: 10.1172/JCI106394. View