Work in Progress
Hypermethioninaemia and 3-Hydroxyisobutyric aciduria in an apparently healthy baby
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.
