title: Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.
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.
authors.affiliation: Children's Hospital, University of Münster, Münster, Germany. Michael.Linnebank@ukb.uni-bonn.de
authors.forename: M
authors.initials: M
authors.lastname: Linnebank
authors.forename: F
authors.initials: F
authors.lastname: Lagler
authors.forename: A C
authors.initials: AC
authors.lastname: Muntau
authors.forename: W
authors.initials: W
authors.lastname: Röschinger
authors.forename: B
authors.initials: B
authors.lastname: Olgemöller
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006710:Homocysteine / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D008715:Methionine / Q000378:metabolism; D008716:Methionine Adenosyltransferase / Q000172:deficiency*; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D006710:Homocysteine; D008715:Methionine; D008716:Methionine Adenosyltransferase