Test Background
Plasma amino acids are maintained within a fairly narrow range. Amino acids present in the blood are freely filtered and then reabsorbed. Amino acid disturbance may be due to a primary amino acid disorder (eg. tyrosinaemia) or may be secondary to other metabolic disturbances (eg. hyperalaninaemia in hyperlactataemia).
Clinical Indications Neonatal presentation of hypotonia, convulsions, acidosis, hypoglycaemia, sepsis, jaundice, failure to thrive and/or diarrhoea Infant/child presenting with mental retardation, delayed neuromotor development, neurological regression, hepatomegaly, splenomegaly, chronic diarrhoea, recurrent hypoglycaemia or acidosis, and/or impaired growth with or without osteo-articular alterations
Reference Range Reference ranges are age dependant, the appropriate range will be given with the test results.
Sample Required Heparin (green top)
Sample Volume 0.5 mL
Turnaround Time 3 weeks
Notes Fasting sample preferred. Please give details of feeding regime and clinical symptoms in order for us to give a valid interpretation of results.
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information