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Deficiency of "acetyl-CoA" acetyltransferase
Did you mean Deficiency of "acetyl-CoA" "acetyl transferase"?
- ... T2 deficiency Β-ketothiolase deficiency Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency National Organization for Rare Disorders ( ...
- ... 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 ...
- 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 ...
- 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. ...
- 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 ...
- 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 ...
- ... making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is ... with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very ...
- ... of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins ... dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2): ...
