Familial Occurrence of Formiminotransferase Deficiency Syndrome
نویسندگان
چکیده
منابع مشابه
Familial occurrence of the antiphospholipid syndrome.
In a family of four the whole spectrum of antiphospholipid and associated antibodies was present but without evidence of connective tissue disease. All four members had anticardiolipin antibodies; two had a confirmed lupus anticoagulant. Thrombocytopenia was severe in one and associated with a high titre of antiplatelet antibody, while another member was found to have a positive antiglobulin te...
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Genetic factors are suggested to play a role in complex regional pain syndrome (CRPS), but familial occurrence has not been extensively studied. In the present study we evaluated familial occurrence in Dutch patients with CRPS. Families were recruited through the Dutch Association of CRPS patients and through referral by clinicians. The number of affected members per family, the phenotypic expr...
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...
متن کاملFormiminotransferase 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 کاملFamilial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria.
OBJECTIVES Myoclonic epilepsy (ME) syndrome is not rare in north-eastern Europe; it is also seen in various forms. Familial occurrence of ME syndrome and acute intermittent porphyria (AIP) was observed in three siblings. The following report was aimed the differentiation between co-morbidity of two different disorders or presence the epileptic seizures within the clinical picture of latent AIP....
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1968
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.96.211