Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

ConclusionsWe therefore conclude that heterozygousUMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research