3-Hydroxyisobutyric aciduria

Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic… Expand

Abstract3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. It has previously been… Expand

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Istanbul, Turkey, 31 August– 3 September 2010 

valine metabolism, results from tissue accumulation and significant elevation of urinary excretion of 3hydroxyisobutyric acid. To… Expand

3-Hydroxyisobutyric aciduria is a rare entity and affected individuals display a range of clinical manifestations including… Expand

3-hydroxyisobutyric aciduria (3HiB-uria) is a very rare organic aciduria that involves valine metabolism. We report the case of a… Expand

We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He… Expand

The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L… Expand

 

Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, microcephaly, migrational brain disorder… Expand