A case series of Pyridoxine Resistant Classical Homocystinuria
نویسندگان
چکیده
منابع مشابه
Treatment of Homocystinuria with Pyridoxine
Homocystinuria is the result of an inborn error in the metabolism of the essential sulphur-containing amino acid, methionine (Carson and Neill, 1962; Gerritsen, Vaughn, and Waisman, 1962). There is now good evidence (Mudd et al., 1964) to show that the basic defect in this disorder is an inactivity of hepatic cystathionine synthetase, which prevents the formation of cystathionine from homocyste...
متن کاملHomocystinuria. Reduced folate levels during pyridoxine treatment.
Wilcken, B., and Turner, B. (1973). Archives of Disease in Childhood, 48, 58. Homocystinuria: reduced folate levels during pyridoxine treatment. Nine patients with homocystinuria due to cystathionine synthase deficiency were treated with pyridoxine: 6 responded biochemically and 5 of these showed marked clinical improvement. Full biochemical response was only obtained slowly in some patients. R...
متن کاملTreatment of homocystinuria with pyridoxine. A preliminary study.
Homocystinuria is the result of an inborn error in the metabolism of the essential sulphur-containing amino acid, methionine (Carson and Neill, 1962; Gerritsen, Vaughn, and Waisman, 1962). There is now good evidence (Mudd et al., 1964) to show that the basic defect in this disorder is an inactivity of hepatic cystathionine synthetase, which prevents the formation of cystathionine from homocyste...
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pyridoxine dependent seizure have been recornized as a rare and important cause of intractable seizure in neonates and infants.prompt diagnosis and treatment can stop and prevent these seizure and consequential developmental disabilities.furthermore it can eliminate the unnecessary administration of anticonvulsant medications and thier side effects.the paitient was 7 months old infant who was r...
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Saini AG, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220296 DESCRIPTION An 8-year-old girl with intellectual disability and severe myopia presented with subacute bilateral painless loss of vision. Anthropometric examination showed a weight of 26 kg (−0.1 Z score), height of 122.5 cm (between −1 and −2 Z score), arm span of 129 cm (6.5 cm longer than the height) and head circumference of 51 ...
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Diabetes Endocrinology and Metabolism
سال: 2019
ISSN: 2012-998X
DOI: 10.4038/sjdem.v9i1.7359