What chromosome is BCKDHA on?
The cytogenetic location of BCKDHA is on the human chromosome 19, specifically on the cytogenetic band at 19q13.
What does the BCKDHA gene do?
The BCKDHA gene provides instructions for making one part, the alpha subunit, of a group of enzymes called the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex.
What protein does BCKDHA code for?
Description. The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2. 4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine.
What is an alpha-keto acid?
Alpha-keto acids are the deaminated form of amino acids, which have been used in several applications in the medicine, food, and feed industries. In vivo, alpha-keto acids are ketogenic or glucogenic precursors, which regulate protein turnover.
What causes maple syrup urine disease?
Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
What are the symptoms of maple syrup urine disease?
All four types of MSUD have symptoms including:
- Urine, sweat, or earwax that smells like maple syrup or burnt sugar.
- Poor feeding, vomiting, loss of appetite, irritability.
- Sluggish/slow/tiredness and weakness.
- Changes in muscle tone – poor muscle tone, muscle tightness/tension.
Should I take L glutamine daily?
While some groups suggest 20 to 30 grams a day, you more than likely don’t need to supplement at all. L-glutamine is a nonessential amino acid, which means your body makes what it needs. Only if you’ve been critically injured would you benefit from supplementation.
Are keto acids toxic?
Branched-chain amino acids are toxic in excess but have to be conserved for protein synthesis. This is accomplished in large part by control of the activity of the branched-chain alpha-keto acid dehydrogenase complex by phosphorylation/dephosphorylation.
What happens to alpha keto acid?
Glucogenic amino acids from proteins are converted to glucose. Ketogenic amino acids can be deaminated to produce alpha keto acids and ketone bodies. Alpha keto acids are used primarily as energy for liver cells and in fatty acid synthesis, also in the liver.