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Article

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

Journal of inherited metabolic disease - 1 Jan 2005

Linnebank M, Lagler F, Muntau A C, Röschinger W, Olgemöller B, Fowler B, Koch H G

Abstract excerpt

This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical complications of MAT I/III deficiency.

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Share to Homocysteine
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Metabolism, Inborn Errors

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Share to Methionine Adenosyltransferase

Share to Mutation, Missense

Source

Identifiers

PMID: 16435220
DOI: 10.1007/s10545-005-4497-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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