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Genetic Brain Disorders |
BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chain Ketoaciduria; Ketoacidemia; Maple Syrup Urine Disease; MSUD |
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine. Characterized by the urine having an odor similar to that of maple syrup. This results in severe mental retardation, and seizures. Because of a genetic bottleneck effect, MSUD has a much higher prevalence in children of Mennonite descent. Also called br ...
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Genetic Brain Disorders Organizations
- Medline Plus http://medlineplus.gov/
- National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/
- National Institutes of Health http://www.nih.gov/
- Mayo Foundation for Medical Education and Research http://www.mayoclinic.com
- National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/
- Food and Drug Administration
- National Library of Medicine
- National Institute of Mental Health http://www.nimh.nih.gov/
- March of Dimes Birth Defects Foundation http://www.marchofdimes.com/
- Save Babies Through Screening
- American Liver Foundation http://www.liverfoundation.org/
- Office of Rare Diseases http://rarediseases.info.nih.gov/
- Children's Health Care System, Seattle
- National Urea Cycle Disorders Foundation
- National Niemann-Pick Disease Foundation http://www.nnpdf.org/
- MSUD Family Support Group
- National Institute of Neurological Diseases and Stroke http://www.ninds.nih.gov/
- Genetics Home Reference http://ghr.nlm.nih.gov/
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