3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel < b > < i > HIBCH < /i > < /b > Gene Mutation and Literature Review

We report a 12-month-old severely affected female infant with a novel homozygous c.556C>G; p.R186G variant in theHIBCH gene presenting with axial hypotonia, severe developmental delay, and brain lesions in the basal ganglia and provide an overview of the literature. When suspected, newborn and selective screening with tandem mass analyses should include hydroxy-C4-carnitine to diagnose this disorder. However, in some cases, mostly in those with milder phenotype, diagnosis may be missed due to normal hydroxy-C4 carnitine levels.Mol Syndromol 2020;11:170-175
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research