Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases | Zendy

Linnebank M. | Zendy; Lagler F. | Zendy; Muntau A. C. | Zendy; Röschinger W. | Zendy; Olgemöller B. | Zendy; Fowler B. | Zendy; Koch H. G. | Zendy

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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.

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