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Maple syrup urine disease type 2
- ... Fructose intolerance Galactosemia Hartnup disease Homocystinuria ... type 1 Tyrosinemia type 2 Viral hepatitis Wilson disease
- ... due to lipoamide dehydrogenase deficiency Lipoamide dehydrogenase deficiency Maple syrup urine disease, type III Genetic Testing Registry: Pyruvate dehydrogenase E3 deficiency ...
- ... PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat. 2013 Feb;34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12. Citation on PubMed Simon E, Flaschker N, Schadewaldt P, ... maple syrup urine disease (MSUD)--the entire spectrum. J Inherit Metab Dis. ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- Overview of Amino Acid Metabolism Disorders (Merck & Co., Inc.)Amino Acid Metabolism Disorders/Start Here ... Amino Acid Metabolism Disorders ... Merck & Co., Inc. ... Overview of Amino Acid Metabolism Disorders - Learn about the causes, ...
- Newborn Screening Tests (Nemours Foundation)... sickle cell anemia, biotinidase deficiency, congenital adrenal hyperplasia, maple syrup urine disease, msud, homocystinuria, cysitc fibrosis, toxoplasmosis, tyrosinemia, CD1Neonatology, CD1Primary ...
- How to Prevent Heart Disease/Start Here ... How to Prevent Heart Disease ... National Heart, Lung, and Blood Institute ... PDF ... From the National Institutes of Health ... heart ...