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

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1167-1168

  Linnebank, Michael ^a,b   Lagler, F ^c   Muntau, A C ^c   Roschinger W ^c   Olgemoller B ^d   Fowler, B ^e   Koch, H G ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Labor Becker   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE ADENOSYLTRANSFERASE; PYRIDOXINE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HEPATOMEGALY; HUMAN; HYPERHOMOCYSTEINEMIA; MALE; METHIONINE ADENOSYLTRANSFERASE DEFICIENCY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; METABOLISM, INBORN ERRORS; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; MUTATION; MUTATION, MISSENSE;

EID: 31644449016     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4497-5     Document Type: Article

References (3)

1. Chou JY (2000) Molecular genetics of hepatic methionine adenosyltransferase deficiency. Pharmacol Ther 85: 1-9.
2. Stabler SP, Steegborn C, Wahl MC, et~al (2002) Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 51: 981-988.
3. Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. J Clin Invest 96: 1943-1947.