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Article

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Journal of human genetics - 1 Jan 2007

Uematsu Mitsugu, Sakamoto Osamu, Sugawara Noriko, Kumagai Naonori, Morimoto Tetsuji, Yamaguchi Seiji, Hasegawa Yuki, Kobayashi Hironori, Ihara Kenji, Yoshino Makoto, Watanabe Yoriko, Inokuchi Takahiro, Yokoyama Takato, Kiwaki Kohji, Nakamura Kimitoshi, Endo Fumio, Tsuchiya Shigeru, Ohura Toshihiro

Abstract excerpt

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency appears to be the most frequent organic aciduria detected in tandem mass spectrometry (MS/MS) screening programs in the United States, Australia, and Europe. A pilot study of newborn screening using MS/MS has recently been commenced in Japan. Our group detected two asymptomatic MCC deficiency patients by the pilot screening and collected data on another...

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Identifiers

PMID: 17968484
DOI: 10.1007/s10038-007-0211-9

Genes

MCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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