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

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Linnebank M, Lagler F, Muntau AC, Roschinger W, Olgemoller B, Fowler B, Koch HG

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

J Inherit Metab Dis. 2005;28(6):1167-8.

PubMed ID

16435220 [ View in PubMed

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Abstract

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.

DrugBank Data that Cites this Article

Drug Enzymes

Drug	Enzyme	Kind	Organism	Pharmacological Action	Actions
Methionine	S-adenosylmethionine synthase isoform type-1	Protein	Humans	Unknown	Substrate	Details