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BNSSG Adult Joint Formulary

9.3 Metabolic disorders

Last edited: 01-02-2024

9.3.1 Acute porphyrias

First line drugs Second line drugs Specialist drugs Secondary care drugs

Haem derivatives

Haem arginate infusion (TLS Red)


9.3.4 Gaucher's Disease


Imiglucerase (parenteral) (TLS Red)

  • UHBW only


9.3.5 Homocystinuria

Betaine (TLS Red)

  • Specialist use only

Penicillamine (TLS Amber 3 months) (SCP click here)

  • Cystinuria


9.3.6 Mucopolysaccharidosis


Idursulfase (parenteral) (TLS Red)

  • UHBW only - as per NSCAG indications



Tiopronin (unlicensed) (TLS Red)

  • Named patient, specialist use only

Ubidecarenone (Co-enzyme Q10) (unlicensed) (TLS Red)

  • for patients with mitochondrial disease who have skeletal myopathy with symptoms of pain and fatigue, under the care of consultants of the neuromuscular disorder service.

 Carnitine (TLS Red)

  • NHSE commissioned for Carnitine Disorder


Urea Cycle disorders

Glycerol phenylbutyrate (Ravicti®) (TLS Red)


9.3.7 Hyperoxaluria

Lumasiran (TLS Red)

  • NICE HST25 Lumasiran for treating primary hyperoxaluria type 1


9.3.8 Nephropathic Cystinosis

Mercaptamine (TLS Red)

  • NHS England commissioned, highly specialised criteria


9.3.9 Wilson's Disease

Trientine (TLS Red)


9.3.10 Fabry disease

Pegunigalsidase alfa (TLS Red)

  • NICE TA915 Pegunigalsidase alfa for treating Fabry disease


9.3.11 Metabolic Supplements

See 9.5.3 Metabolic supplements for further information on prescribing of supplements.


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