Homocystinuria due to cystathionine beta synthase deficiency.
نویسندگان
چکیده
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan's syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.
منابع مشابه
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
An inborn error of metabolism, homocystinuria due to cystathionine beta-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication. Half of all untreated patients have a vascular event by 30 years of age. We performed a multicenter observational study to assess the effectiveness of long-term homocyst...
متن کاملDystonia in homocystinuria.
Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was no...
متن کاملTitle Molecular characterization of a cystathionine beta-synthase gene, CBS1, in Magnaporthe grisea
1 CBS1 from Magnaporthe grisea is a structural and functional homolog of the 2 cystathionine beta synthase (CBS) gene from Saccharomyces cerevisiae. Our studies 3 indicated that M. grisea can utilize homocysteine and methionine through a CBS4 independent pathway. Results also revealed responses of M. grisea to homocysteine that 5 are reminiscent of human homocystinuria. 6
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ورودعنوان ژورنال:
- Indian journal of dermatology, venereology and leprology
دوره 74 4 شماره
صفحات -
تاریخ انتشار 2008