UMPH (uridine monophosphate hydrolase, pyrimidine-5’-nucleotidase)

Description: 
UMPH is assayed as in red cell lysates as the conversion of UMP to uridine, with the products of the reaction separated from the substrate by HPLC.
Clinical details: 
UMPH deficiency is a red cell enzymopathy resulting in a chronic anaemia characterised by basophilic stippling. UMPH degrades pyrimidine nucleotides to the nucleoside. A deficiency of the enzyme leads to the accumulation of cytidine and uridine nucleotides in red cells.

UMPH activity is also markedly decreased in lead poisoning.
Reference range: 

9 - 20

Units: 
nmol/h/mgHb
Sample type and Volume required: 
4 mL blood EDTA (purple top)
Turnaround time: 
1 week
Storage and transport: 
Store in fridge, ( don’t freeze) to laboratory within 3 days/1st class pos.
Contacts:
Purine Research Laboratory at St Thomas'
020 7188 1266
St Thomas’ Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 15/12/2015