Nitisinone (NTBC) and Succinylacetone

Description: 
This test is part of the transfer of services from the WellChild laboratory at the Evelina Children’s Hospital. Nitisinone (NTBC) and succinylacetone by liquid chromatography tandem mass spectrometry (LC-MS/MS).

This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2012
Clinical details: 
For the monitoring of known patients with inherited metabolic disease, specifically tyrosinaemia type 1.
Related condition or disease: 
Hereditary tyrosinaemia type 1
Reference range: 

NTBC recommended therapeutic target range 20-40 µmol/L

Synonyms or keywords: 
NTBC, Suac, Succ, SA
Units: 
µmol/L
Department: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
Bloodspot card. Two spots > 8 mm in diameter. Blood must be soaked through & not multi-spotted. Blood spots must be allowed to dry sufficiently before being placed in the glassine envelope.
Special sample instructions: 

Samples that are received without a minimum of three forms of patient identifiable information will be rejected and will not be analysed. Sample collection date must be supplied.

Criteria for acceptance / rejections of sample
Storage and transport: 
DBS SuAc is reported to be stable when stored at low humidity (<5% of initial concentration lost over 30 days). However, due to significant losses at high humidity, specimens should be stored frozen at -20°C in foil envelope with desiccant until analysis. DBS samples can be sent at ambient temperature via first class post or courier.
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.
Laboratory: 
Inherited Metabolic Disease Laboratory at St Thomas'

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Last updated: 30/07/2025