Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.

Abstract

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.

• Authors: G Takada, M Ohtake, S Miyabayashi, K Tada
• Journal: The Tohoku journal of experimental medicine (Tohoku J Exp Med) Vol. 136 Issue 1 Pg. 103-7 (Jan 1982) ISSN: 0040-8727 [Print] Japan
• PMID: 6803393 (Publication Type: Journal Article)

Chemical References

• Phytohemagglutinins

Topics

• Adult
• Female
• Humans
• Lymphocyte Activation
• Lymphocytes (enzymology)
• Male
• Phytohemagglutinins (pharmacology)
• Pyruvate Carboxylase Deficiency Disease