Methylmalonyl-CoA Mutase Activity of Leukocytes in Variants and Heterozygotes of Methylmalonic Acidemia

KUNIAKI NARISAWA; TAKASHI SAITO; SHIGEO HISA; HIROSHI SUZUKI; KIYOSHI HAYASAKA; TSUNEO ARAKAWA; KIMIICHI KONNO; SHUJI TSUCHIDA; YUTAKA TSUCHIYA

doi:10.1620/tjem.123.1

KUNIAKI NARISAWA, TAKASHI SAITO, SHIGEO HISA, HIROSHI SUZUKI, KIYOSHI HAYASAKA, TSUNEO ARAKAWA, KIMIICHI KONNO, SHUJI TSUCHIDA, YUTAKA TSUCHIYA

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KUNIAKI NARISAWA
Department of Pediatrics, Tohoku University School of Medicine
TAKASHI SAITO
Department of Pediatrics, Tohoku University School of Medicine
SHIGEO HISA
Department of Pediatrics, Tohoku University School of Medicine
HIROSHI SUZUKI
Department of Pediatrics, Tohoku University School of Medicine
KIYOSHI HAYASAKA
Department of Pediatrics, Tohoku University School of Medicine
TSUNEO ARAKAWA
Department of Pediatrics, Tohoku University School of Medicine
KIMIICHI KONNO
Department of Pediatrics, Akita University School of Medicine
SHUJI TSUCHIDA
Pediatric Clinic, Yonezawa City Hosptial
YUTAKA TSUCHIYA
Pediatric Clinic, Tokyo Metropolitan Kiyose Children's Hospital

Keywords: methylmalonic acidemia, methylmalonyl-CoA mutase in leukocytes, vitamin B₁₂ unresponsive, vitamin B₁₂ responsive, heterozygotes

JOURNAL FREE ACCESS

1977 Volume 123 Issue 1 Pages 1-8

DOI https://doi.org/10.1620/tjem.123.1

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Abstract

An assay method for the methyl-malonyl-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.

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