The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Lymphoblasts and Diagnosis of Pyruvate Carboxylase Deficiency
GORO TAKADAMASATOSHI OHTAKESHIGEAKI MIYABAYASHIKEIYA TADA
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1982 Volume 136 Issue 1 Pages 103-107

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Abstract
TAKADA, G., OHTAKE, M., MIYABAYASHI, S. and TADA, K. Lymphoblasts and Diagnosis of Pyruvate Carboxylase Deficiency. Tohoku J. exp. Med., 1982, 136 (1), 103-107 - Pyruvate carboxylase activity was measured in phytohemagglutinin-transformed lymphocytes (i.e. lymphoblasts). Mean value±S.D. for 10 controls was 259±38 pmoles/min per mg protein. It was about 7 times higher than that of peripheral leukocytes and a half of cultured skin fibroblasts with similar techniques. Deficient pyruvate carboxylase activity less than 6 pmoles/min per mg protein was demonstrated in the lymphoblasts from a patient with biotin-dependent multiple carboxylase deficiency. It is suggested that lymphoblasts may allow more reliable and ready diagnosis of patients with pyruvate carboxylase deficiency.
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