Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

doi:10.1002/humu.20349

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Article

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Human mutation - 1 Aug 2006

Stadler Sonja C, Polanetz Roman, Maier Esther M, Heidenreich Sylvia C, Niederer Birgit, Mayerhofer Peter U, Lagler Florian, Koch Hans-Georg, Santer René, Fletcher Janice M, Ranieri Enzo, Das Anibh M, Spiekerkötter Ute, Schwab Karl O, Pötzsch Simone, Marquardt Iris, Hennermann Julia B, Knerr Ina, Mercimek-Mahmutoglu Saadet, Kohlschmidt Nicolai, Liebl Bernhard, Fingerhut Ralph, Olgemöller Bernhard, Muntau Ania C, Roscher Adelbert A, Röschinger Wulf

Abstract excerpt

New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Aust...

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Identifiers

PMID: 16835865
DOI: 10.1002/humu.20349

Genes

MCCC1
MCCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16835865-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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