Amino acid differentiation
Amino acid differentiation
Material 0.50 ml of serum
Synonyms: Alanine Alpha-aminobutyric acid Arginine Asparagine Asparagic acid Citrulline Cysteine Glutamine Glutamic acid Glycine Histidine Hydroxyproline Isoleucine Leucine Lysine Methionine Ornithine Phenylalanine Proline Sarcosine Serine Threonine Tryptophan Tyrosine Valine
What is this tested for? Amino acid metabolism Urea cycle Hypophosphatasia Rare congenital metabolic diseases
Method:Liquid chromatography-mass spectrometry (LCMS)
When to do this test: When genetically determined disorders of amino acid metabolism, amino acid storage or amino acid transport are suspected, e.g., B. Fanconi syndrome or Hartnup disease.
Depending on the underlying metabolic disorder, an increase in individual amino acids or groups of amino acids may be observed in different situations.
This test can also be done from urine if desired:
Blood tests are usually used to measure amino acids because they directly reflect the concentration of amino acids in the blood stream. Blood tests offer a more direct and accurate representation of the current amino acid status in the body.
Urinalysis can also provide information about amino acids, but it is more likely to reflect what is excreted by the body. It can be useful for identifying certain metabolic disorders, but it does not provide the same direct information about actual blood concentrations of amino acids that a blood test does.
In general, a blood test is recommended for assessing amino acids in the context of nutritional status, metabolism or genetic conditions. It is always advisable to discuss the specific testing requirements and recommendations with your doctor, as the choice may depend on your specific health situation and the information the doctor is trying to obtain.
Fanconi syndrome and Hartnup disease are both rare disorders that affect the metabolism and absorption of certain substances in the body.
Fanconi syndrome:
Fanconi syndrome is not an isolated disease, but rather a group of disorders that affect the kidney tubules. These tubules in the kidneys are responsible for reabsorbing nutrients such as glucose, amino acids, and electrolytes back into the bloodstream, while filtering wastes from the blood to be excreted.
People with Fanconi syndrome have problems reabsorbing certain substances, leading to excessive loss of glucose, amino acids, phosphate, and other substances in the urine. This can lead to symptoms such as growth retardation, bone abnormalities, and electrolyte imbalance.
Hartnup disease:
Hartnup disease is an inherited disorder that affects the absorption of certain amino acids, such as tryptophan, in the small intestine. Tryptophan is an essential amino acid needed by the body for the production of protein and other substances.
People with Hartnup disease have difficulty absorbing tryptophan, which can lead to symptoms such as skin rashes, coordination problems, and neurological symptoms. It can also affect the production of niacin (vitamin B3), which can cause further health problems.
Both conditions are rare and are often diagnosed in childhood. Treatment focuses on managing symptoms and correcting nutrient deficiencies. Early diagnosis and treatment are essential to prevent complications. It is important to consult with a physician for a proper diagnosis and treatment plan if these conditions are suspected.
The interpretation of the results of an amino acid study is complex and should be done by a qualified and a health professional specializing in it. This type of study is often used as part of a broader evaluation that also takes into account other clinical findings, symptoms and medical history. It is not recommended that this examination be ordered as a consumer.
