Methemoglobin Reductase (Cytochrome b5 Reductase) Deficiency in Congenital Methemoglobinemia
نویسندگان
چکیده
منابع مشابه
Congenital methemoglobinemia methemoglobin reductase deficiency.
Shortly after the first white settlers crossed through the Cumberland Gap into the western foothills of the Appalachians there arose in one kinship several particu larly swarthy offspring characterized by deep bluish skin coloration. These folks — the Blue Fugates — apparently suffered no ill effects of this condition and indeed numerous off-spring were bom some of which also had this peculiar...
متن کاملMethemoglobin Reductase ( Cytochrome b 5 Reductase ) Deficiency in Congenital
Two NADH diaphorases, diaphorase I and II, were isolated from normal red cells and congenital methemoglobinemic red cells by CM-cellulose and DE 32 column chromatography. For methemoglobinemic sample, activities of diaphorase I and diaphorase II were 80% and less than 5% of those for the normal red cells, respectively. Only diaphorase II showed cytochrome b5 reductase activity. The cytochrome b...
متن کاملHereditary Methemoglobinemia Due to Cytochrome b5 Reductase Deficiency
We report a boy with chronic central cyanosis since birth. He was otherwise asymptomatic with chocolate brown color of blood. Methemoglobinemia was suspected after exclusion of the cardiac and pulmonary diseases. Hereditary methemoglobinemia was considered by his clinical course. The simple bedside procedure could be performed to determine methemoglobinemia by vigorous shaking his blood with ox...
متن کاملMembrane-bound cytochrome b5 reductase (methemoglobin reductase) in human erythrocytes. Study in normal and methemoglobinemic subjects.
In this study we present evidence that in human erythrocytes NADH-cytochrome b5 reductase (methemoglobin reductase) is not only soluble but also tightly bound to the membrane. The membrane methemoglobin reductase-like activity is unmasked by Triton X-100 treatment, and represents about half of the total activity in the erythrocytes. Like the amphiphilic microsomal-bound cytochrome b5 reductase,...
متن کاملAdipose fatty acid composition in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.
The fatty acid composition of the triglyceride in adipose tissue in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation was analyzed and compared with age-matched controls. The proportions of linoleic acid, linolenic acid and arachidonic acid were decreased to less than half of normal level. There was a decrease in total unsaturate...
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ژورنال
عنوان ژورنال: Blood
سال: 1974
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v44.6.879.879