title: 3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family.
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 metabolite 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.
authors.affiliation: Department of Child Health, University of Bristol, UK. j.p.h.shield@Bristol.ac.uk
authors.forename: J P
authors.initials: JP
authors.lastname: Shield
authors.forename: R
authors.initials: R
authors.lastname: Gough
authors.forename: J
authors.initials: J
authors.lastname: Allen
authors.forename: R
authors.initials: R
authors.lastname: Newbury-Ecob
mesh_terms: D002648:Child; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine*; D008831:Microcephaly / Q000235:genetics* / Q000652:urine*; D010641:Phenotype
chemical_list: D006885:Hydroxybutyrates; C020757:3-hydroxyisobutyric acid