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Article

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

American journal of human genetics - 1 Feb 2000

Chamberlin M E, Ubagai T, Mudd S H, Thomas J, Pao V Y, Nguyen T K, Levy H L, Greene C, Freehauf C, Chou J Y

Abstract excerpt

Methionine adenosyltransferase (MAT) I/III deficiency, caused by mutations in the MAT1A gene, is characterized by persistent hypermethioninemia without elevated homocysteine or tyrosine. Clinical manifestations are variable and poorly understood, although a number of individuals with homozygous null mutations in MAT1A have neurological problems, including brain demyelination. We analyzed MAT1A in seven...

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Identifiers

PMID: 10677294
DOI: 10.1086/302752
PMCID: PMC1288087

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Source receipt: pubmed, retrieved 7 Sept 2026.

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