Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.
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.
Linnebank
M
M
Children's Hospital, University of Münster, Münster, Germany. Michael.Linnebank@ukb.uni-bonn.de
Lagler
F
F
Muntau
A C
AC
Röschinger
W
W
Olgemöller
B
B
Fowler
B
B
Koch
H G
HG
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
D006710:Homocysteine; D008715:Methionine; D008716:Methionine Adenosyltransferase