|Category||Biochemistry >> Metabolic|
Organic acids are carboxylic acids with or without non-amino functional groups. Though organic acids share homology with amino acids, they remain distinct moieties, and alterations in organic acid composition may be used to detect specific inborn errors of metabolism, eg. increased adipate and suberate levels secondary to fatty acid oxidation defects.
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
|Sample & container required||Random urine|
|Sample volume||5 mL|
|Turnaround time||5 weeks|
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.