Maple syrup urine disease
Other Names for this Disease
- BCKD deficiency
- BCKDH deficiency
- Branched chain ketoaciduria
- Branched-chain 2-ketoacid dehydrogenase deficiency
- Branched-chain alpha-keto acid dehydrogenase deficiency
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- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.