Formiminotransferase Deficiency Syndrome Associated with Megaloblastic Anemia Responsive to Pyridoxine or Folic Acid
نویسندگان
چکیده
منابع مشابه
Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid.
Formiminotransferase deficiency syndrome1,2 was firstly discovered by us as a new inborn error of folate metabolism which was characterized by 1) mental retardation, 2) hyperfolic acidemia, and 3) an excessive urinary excretion of formiminoglutamic acid (FIGLU) following an oral dose of L-histidine. A definite diagnosis of this syndrome was established by demonstrating a defective activity of f...
متن کاملFormiminotransferase activity of liver from mice with pyridoxine deficiency.
Recently we have encountered an infant of formiminotransferase deficiency syndrome associated with megaloblastic pyridoxine responsive anemia of congenital origin.1 In 1966 Vitale et al.2 reported that formiminotransferase activity of the liver was markedly decreased in rats with iron deficiency and suggested a possibility of requirement of iron for function and/or formation of formiminotransfe...
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thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
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LTHOUGH megaboblastic anemia of pregnancy is considered mainly as a folic acid deficiency anemia, since this vitamin induces remission in most cases, its mechanism of production is still obscure. Dietary deficiency has been claimed to be the principal cause. However, this anemia has been observed in well-to-do women whose diet was satisfactory. Some other factors such as gastrointestinal upset,...
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1968
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.94.3