3-hydroxyisobutyric aciduria

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3-hydroxyisobutyric aciduria

A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development to massive acidosis seizures and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly triangular face short sloping forehead long prominent philtrum and micrognathia) and variable cerebral anomalies have also been described.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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3-hydroxyisobutyric aciduria?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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