Article
Persistent hypermethioninaemia with dominant inheritance.
Journal of inherited metabolic disease - 1 Jan 1992
Blom H J, Davidson A J, Finkelstein J D, Luder A S, Bernardini I, Martin J J, Tangerman A, Trijbels J M, Mudd S H, Goodman S I
Abstract excerpt
A clinically benign form of persistent hypermethioninaemia with probable dominant inheritance was demonstrated in three generations of one family. Plasma methionine concentrations were between 87 and 475 mumol/L (normal mean 26 mumol/L; range 10-40 mumol/L); urinary methionine and homocystine con...
Topics
- Amino Acid Metabolism, Inborn Errors
- Humans
- Infant
- Isoenzymes
- Liver
- Male
- Methionine
- Methionine Adenosyltransferase
- Mutation
- Pedigree