Congenital factor X deficiency is a very rare inherited coagulation abnormality. There have been reported 43 cases of this disorder in the world and only 2 cases in Japan. Recently, we have hemostatically and immunologically examined as many as 3 cases of this rare disease, 18-year-old male, 11-year-old male and 6-year-old female. Hemostatic examinations revealed prolonged prothrombin time, partial thromboplastin time and decreased serum thromboplastic activity in these 3 cases. Stypven-cephalin clotting time was also abnormal. Factor X activities of our cases were low when assayed by either tissue thromboplastin and partial thromboplastin or by Stypven-cephalin mixture, which were 2.6, 1.5 and 4.5%, respectively. The half lives of infused factor X were 24, 38.6 and 56 hr, respectively, which are consistent with the data of other authors. Immunological assay of factor X (radioimmunoassay) showed 0.47 microgram/ml in the second case and 0.15 microgram/ml in the third case, from which our cases were considered to be classical factor X deficiency.

Adolescent↗

PubMed1981

New morphological findings on platelets in Bernard-Soulier syndrome.

Bernard-Soulier Syndrome is characterized morphologically by many giant platelets in the peripheral blood. However, the mechanism of large platelet production has not yet been clarified. Our electron microscopic examinations revealed that some platelets have two or three definite circumferential bundles of microtubules, whereas no pathological findings were obtained in the liberation of platelets from megakaryocytes by light microscopy. From these observations, we consider that the giant platelets of Bernard-Soulier Syndrome are formed by fusion of two or three platelets while they are circulating in the peripheral blood stream.

Adult↗

PubMed1980

[A case of ileal hemorrhagic infarction of unknown origin (author's transl)].

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Female↗

PubMed1977

Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

An assay method for the methylmalonyl-CoA mutase of leukocytes obtained from 3 ml of blood was established. The enzyme activity which was measured with or without the in vitro addition of 5'-deoxyadenosylcobalamin was found to be of value for the diagnosis of two variants of methylmalonic acidemia (vitamin B12 responsive and unresponsive), and also for the detection of heterozygotes with the vitamin B12 unresponsive type.

Amino Acid Metabolism, Inborn Errors↗