Amino acids (blood)
| Category | Biochemistry >> Metabolic |
|---|---|
| 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 & container 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 |