Print friendly version
Holocarboxylase synthetase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Holocarboxylase synthetase deficiency. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Holocarboxylase synthetase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Holocarboxylase synthetase deficiency. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.