
Fingerstick
Amino Acids (Blood spot test)
Amino acids (Blood spot test)
€ 135,00
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Vitamins, minerals and amino acids · Blood
One of the three branched-chain amino acids (BCAAs) from protein-rich food, used mainly by the muscles.
At a glance
Explanation
Isoleucine is an essential amino acid and one of the three branched-chain amino acids (BCAAs), together with leucine and valine. It has to come from food, mainly from meat, fish, dairy and eggs. The muscles use BCAAs to build muscle protein and as fuel. This test measures isoleucine in the blood.
Result
A raised isoleucine value is usually caused by a protein-rich meal or supplements containing branched-chain amino acids (BCAAs) shortly before the sample collection. In research, people with overweight or insulin resistance (reduced sensitivity to insulin) have higher BCAA values on average, but the measurement cannot be used to establish this in an individual person. A slightly raised value does not cause symptoms by itself. Rarely, a strongly raised value of all three branched-chain amino acids fits the inborn disease MSUD (maple syrup urine disease), which is detected through the heel prick.
A low value is often caused by fasting, a low-protein meal, strenuous exercise or normal fluctuations during the day. Eating little or little protein for a long time, malnutrition, serious illness and pregnancy can lower several amino acids at once. A low value of one amino acid does not mean you need that amino acid as a supplement. Rarely, a low value fits an inborn disorder in the production of an amino acid.
A slightly abnormal value in someone without symptoms usually does not lead to further tests; the GP looks at diet, supplements, medicines and the circumstances of the sample collection, and has the test repeated while fasting if needed. With strongly abnormal values or an abnormal pattern together with matching symptoms, the GP consults, or refers you to, an internist (specialist in internal medicine) or pediatrician with experience in metabolic diseases.
Reliability
In the Netherlands, amino acids are mainly measured in specialized laboratories for metabolic diseases, at the request of a specialist when an inborn metabolic disease is suspected or to monitor its treatment and diet. According to the American laboratory standard (ACMG), blood plasma, preferably collected while fasting, is the recommended sample; urine is less reliable as a first test, because the kidneys take back most amino acids and medicines can interfere with the measurement. As a 'functional' profile for finding deficiencies or tailoring supplements in adults without symptoms, the test has not been validated.
Who it is for
In hospitals, a specialist uses this test when a metabolic disorder is specifically suspected, or to monitor a known metabolic disease and the diet that goes with it. For adults without symptoms, to find nutritional deficiencies or to choose supplements, the test is not useful according to current knowledge. If you use protein supplements or single amino acids, you get a result that mainly shows that intake.
Inborn disorders of amino acid metabolism are rare. In the Netherlands, the heel prick finds on average about 12 children with PKU (phenylketonuria) per year and about 1 child with MSUD (maple syrup urine disease) or tyrosinemia type 1. There are no Dutch figures on abnormal amino acid values in adults without symptoms.
RIVM, heel prick screening (pns.nl)
Evidence
This explanation is based on Dutch guidelines and independent information. It is general information, not a diagnosis. Discuss an abnormal result with your GP.
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