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Results 1 - 6 of 6 for "3-methylcrotonyl-CoA" carboxylase 2 deficiency
  1. 3-methylcrotonyl-CoA carboxylase deficiency 
    ... as 3-methylcrotonyl-CoA carboxylase 1 deficiency or 3-methylcrotonyl-CoA carboxylase 2 deficiency depending on the specific gene that is affected. ... methylcrotonyl-CoA carboxylase 1 deficiency Genetic Testing Registry: 3-methylcrotonyl-CoA carboxylase 2 deficiency ... carboxylase deficiency National Organization for ...
    https://medlineplus.gov/...methylcrotonyl-coa-carboxylase-deficiency - Genetics
  2. MCCC2 gene 
    ... changes will show signs and symptoms of MCC deficiency. More About This Health Condition 3-methylcrotonyl-CoA carboxylase 2 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit ...
    https://medlineplus.gov/genetics/gene/mccc2 - Genetics
  3. MCCC1 gene 
    ... Coelho D, Fowler B, Valle D, Baumgartner MR. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9352. Citation on ...
    https://medlineplus.gov/genetics/gene/mccc1 - Genetics
  4. 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. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
    https://www.marchofdimes.org/.../newborn-screening-tests-your-baby - External Health Links
  6. CA5A gene 
    ... gluconeogenesis) in the liver. Propionyl-CoA carboxylase and 3-methylcrotonyl-CoA carboxylase help ... anhydrase VA deficiency. This inherited disorder is characterized by potentially life- ...
    https://medlineplus.gov/genetics/gene/ca5a - Genetics