Term Name: | holocarboxylase synthetase deficiency |
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Synonyms: | Biotin-(propionyl-CoA-carboxylase) ligase deficiency, Multiple carboxylase deficiency - neonatal onset |
Definition: | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
Ontology: | Human Disease [DOID:859] ( DOID:859 ) |