3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family

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Abstract

3-hydroxyisobutyric aciduria is a rare biochemical finding associated with a variable clinical phenotype in the literature. We report two siblings excreting abnormal levels of this matbolite from a consanguineous family who manifested distinct phenotypic variation. We speculate as to whether this biochemical anomaly may simply be an incidental finding and suggest that pre-natal counselling on the basis of metabolite identification may be unwarranted.

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