Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for Deficiency of "acetyl-CoA" acetyltransferase
Did you mean Deficiency of "acetyl-CoA" "acetyl transferase"?
  1. Beta-ketothiolase deficiency 
    ... T2 deficiency Β-ketothiolase deficiency Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/beta-ketothiolase-deficiency - Genetics
  2. ACAT1 gene 
    ... ACAT1 gene have been identified in people with beta-ketothiolase deficiency. The condition usually appears before age 2 and ... coma. Some of the genetic changes that cause beta-ketothiolase deficiency disrupt the normal function of the enzyme, while ...
    https://medlineplus.gov/genetics/gene/acat1 - Genetics
  3. Amino Acid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
    https://medlineplus.gov/aminoacidmetabolismdisorders.html - Health Topics
  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 (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
    https://medlineplus.gov/newbornscreening.html - Health Topics
  6. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
    https://www.marchofdimes.org/.../newborn-screening-tests-your-baby - External Health Links
  7. DLAT gene 
    ... making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is ... with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  8. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links
  9. Pyruvate dehydrogenase deficiency 
    ... of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins ... dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2): ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics