Urine Organic Acids - including methylmalonic acid, orotic acid, succinylacetone and hexanoylglycine

Description: 
Analysis by GC-MS

This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2012.
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.
Reference range: 

Qualitative report, Methylmalonic acid <10 umol/mmol creatinine, Orotic acid <5 umol/mmol creatinine

Synonyms or keywords: 
Organic acid, MMA, Methylmalonic acid, OA, Orotic acid, Succinylacetone, Hexanoylglycine
Units: 
umol/mmol creatinine
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
Turnaround time: 
2 weeks
Storage and transport: 
Store frozen but sample can be sent via 1st class post
Contacts:
Inherited Metabolic Diseases Unit at St Thomas' Hospital
0207 188 9652
St Thomas' Hospital
North Wing - 4th Floor
London
SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 18/12/2020