Imperial Collage Healthcare

Organic acids


Test Background
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.


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

See Report


Sample Required
Random urine


Sample Volume
5 mL


Turnaround Time
5 weeks


Notes
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.

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