Premium
Hypermethioninaemia and 3‐Hydroxyisobutyric aciduria in an apparently healthy baby
Author(s) -
Congdon P. J.,
Haigh D.,
Smith R.,
Green Anne,
Pollitt R. J.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263600
Subject(s) - alanine , medicine , methylmalonic aciduria , chemistry , endocrinology , biochemistry , methylmalonic acid , amino acid , homocysteine
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.