Description
Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can be the result of defects either in the breakdown of amino acids or in the body’s ability to get the amino acids into cells.
Indications
The hallmark of disorders associated with abnormal amino acid metabolism which appear early in infancy or childhood of affected individuals are physical and mental retardation. These disorders include, but are not limited to, Phenylketonuria, maple syrup urine disease, homocystinuria & tyrosinemia.
Sample Type, Quantity & Conditions
2 ml EDTA Plasma Room temperature
Special Precautions
Fasting samples are preferred. State age, sex, drug therapy and family history. Separate plasma from cells as soon as possible. Avoid heparinised and haemolysed samples.
Normal Range
By Report result is age related