What is amino acid disorder screening?

Answer 1

Amino acid disorder screening checks for inherited disorders in amino acid metabolism. Tests are most commonly done on newborns. Two tests are available, one using a blood sample and the other a urine sample.

Newborn screening was first applied to the detection of phenylketonuria (PKU) by a bacterial inhibition assay pioneered in 1961 by Guthrie, who was also responsible for the introduction of the use of a dried blood sample. This

was followed by further bacterial inhibition assays to detect other aminoacidopathies (maple syrup urine disease, homocystinuria, urea cycle disorders and so on) but only screening for PKU was widely adopted. In 1975 Dussault described screening for congenital hypothyroidism (CH), and since then other disorders covered in some screening programmes have included congenital adrenal hyperplasia, the galactosaemias, cystic fibrosis, biotinidase deficiency,

glucose-6-phosphate dehydrogenase deficiency and many others. The application of GCMS technology has changed the diagnostics in metabolic disorders giving accurate results from a urine test. This new technology has greatly changed both newborn screening and the diagnosis of as many as 100 treatable inborn errors of metabolism including the amino acid metabolism.

Answer 2

Amino acid disorder screening is a test that measures the levels of amino acids in the blood or urine to detect abnormalities that may indicate certain metabolic disorders, such as phenylketonuria (PKU) or maple syrup urine disease. These disorders result from the body's inability to break down certain amino acids properly. Early detection through screening can help manage these conditions effectively.