Urine Organic Acids – including methylmalonic acid, orotic acid, succinylacetone and hexanoylglycine
- Description
- Analysis by GC-MS
- Clinical details
Organic acids in urine can assist in the diagnosis of a number of inherited metabolic diseases, including those of amino acid metabolism (e.g. MSUD, urea cycle defects) and organic acidaemias.
Although not an exhaustive list, organic acid disorders often present with nonspecific symptoms such as unexplained metabolic acidosis, reduced levels of consciousness, hypoglycaemia, hyperammonaemia, hypotonia or neurological signs.
- Related condition
- Reference range
Qualitative report, Methylmalonic acid <10 umol/mmol creatinine, Orotic acid <5 umol/mmol creatinine
- Units
umol/mmol creatinine
- Synonyms
Organic acid, MMA, Methylmalonic acid, OA, Orotic acid, Succinylacetone, Hexanoylglycine
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
Random urine (plain universal). Minimum sample volume 5 mL urine. Acidified samples are unsuitable.
- Call in advance
Discuss with laboratory to arrange urgent same day analysis
- Storage and transport
Store frozen but sample can be sent
via 1st class post
- Turnaround time
2 weeks
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ