What is the aminoaciduria?

Aminoaciduria is an abnormal amount of amino acids in the urine. Amino acids are the building blocks for proteins in the body. A clean-catch urine sample is performed by collecting the sample of urine in midstream.

What is overflow aminoaciduria?

In overflow aminoaciduria, abnormally high concentrations of amino acids in the blood plasma overwhelm the resorptive capacity of the renal tubules, resulting in high concentrations of amino acids in the urine.

What are the disorders of amino acids?

Disorders that affect the metabolism of amino acids include phenylketonuria, tyrosinemia, homocystinuria, non-ketotic hyperglycinemia, and maple syrup urine disease. These disorders are autosomal recessive, and all may be diagnosed by analyzing amino acid concentrations in body fluids.

What is Aminoacid metabolism?

Amino acid metabolism is an important process that occurs within the human body to assist in numerous biological reactions. This article will cover the role of glutamate, transamination reactions, and various types of amino acids such as glycogenic, ketogenic, and mixed amino acids.

Can aminoaciduria be treated?

There is no known cure for aminoaciduria. Aminoaciduria is often treated with a restrictive diet, to minimize or eliminate exposure to a particular amino acid.

What are the classification of amino acids?

Amino acids are classified as basic, acidic, aromatic, aliphatic, or sulfur– containing based on the composition and properties of their R groups.

What is the importance of amino acid metabolism?

Amino acid metabolism is reprogrammed due to its important role in energy metabolism abnormity in tumor cells. Being the most prominent part in tumor-specific amino acid metabolic pathways, glutamine, the second important energy resource of tumor cells, produces abundant ATP for tumor growth (Bhutia et al., 2015).

What are the steps of amino acid metabolism?

Generally the first step in the breakdown of amino acids is the removal of the amino group, usually through a reaction known as transamination. The carbon skeletons of the amino acids undergo further reactions to form compounds that can either be used for the synthesis of glucose or the synthesis of ketone bodies.

What causes Hartnup disease?

Causes. Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein called B0AT1, which is primarily found embedded in the membrane of intestine and kidney cells. The function of this protein is to transport certain amino acids into cells.

What is maple sugar urine disease?

Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into amino acids.

What is renal Fanconi syndrome?

Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.

What is homocystinuria?

Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can’t process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.

What enzyme causes maple syrup urine disease?

Maple syrup urine disease is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs.

What is the treatment for maple syrup disease?

How Is Maple Syrup Urine Disease Treated? The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, they’ll follow the special diet for the rest of their lives.

What is the blood test for MSUD?

Plasma amino acids testing

Plasma amino acids (PAA) testing should be performed to assess for elevated levels of branched-chain amino acids (BCAAs) and to detect l-alloisoleucine (derived from l-isoleucine). The detection of l-alloisoleucine (also termed alloisoleucine) is diagnostic for maple syrup urine disease.

What is the biochemical cause of MSUD?

MSUD is caused by changes (mutations) in one of three different genes: BCKDHA, BCKDHB and DBT. Mutations in these genes result in absent or decreased activity of human branched-chain alpha-ketoacid dehydrogenase complex (BCKAD) enzymes.

What is the pathophysiology of maple syrup disease?

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine.

Who discovered MSUD?

Maple syrup urine disease (MSUD) was first described in 1954 by Menkes et al. as a progressive neurologic degenerative disorder.

How is maple syrup urine disease prevented?

Since MSUD is an inherited disease, there is no method for prevention. A genetic counselor can help you determine your risk for having a baby with MSUD. Genetic testing can tell you if you or your partner is a carrier of the disease.