3-hydroxy-3-methylglutaric aciduria
Synonyms: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMG-CoA lyase deficiency | Hydroxymethylglutaric aciduria
A rare organic aciduria due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.
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 April 2024
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3-hydroxy-3-methylglutaric aciduria?
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