Hypermethioninaemia and 3‐Hydroxyisobutyric aciduria in an apparently healthy baby
- 1 December 1981
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 4 (1) , 79-80
- https://doi.org/10.1007/bf02263600
Abstract
An apparently healthy baby with persistent hypermethioninaemia excretes increased amounts of 3-hydroxyisobutyrate, 3-hydroxypropionate, β-aminoisobutyrate and β-alanine. A defect in the oxidation of methylmalonic and malonic semialdehydes is proposed but the cause of the hypermethioninaemia is obscure.Keywords
This publication has 2 references indexed in Scilit:
- [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate.Proceedings of the National Academy of Sciences, 1975
- The determination of β-aminoisobutyric acid in human serum by ion-exchange chromatographyClinica Chimica Acta; International Journal of Clinical Chemistry, 1975