3-hydroxyisobutyric aciduria

Definition

3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.

Also known as 3-hydroxyisobutyric aciduria — per MONDO

Also identified as

• ICD9 791.9 per MONDO
• MESH C535312 per MONDO
• OMIM 236795 per MONDO
• Orphanet 939 per MONDO
• SCTID 237957007 per MONDO
• UMLS C0342737 per MONDO