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Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases
Author(s) -
Linnebank M.,
Lagler F.,
Muntau A. C.,
Röschinger W.,
Olgemöller B.,
Fowler B.,
Koch H. G.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-4497-5
Subject(s) - methionine adenosyltransferase , methionine , medicine , endocrinology , homocystinuria , homocysteine , biochemistry , biology , amino acid
Summary 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.