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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
Enzymes
Imiglucerase (parenteral) (TLS Red)
9.3.5 Homocystinuria
Betaine (TLS Red)
Penicillamine (TLS Amber 3 months) (SCP click here)
9.3.6 Mucopolysaccharidosis
Enzymes
Idursulfase (parenteral) (TLS Red)
- UHBW only - as per NSCAG indications
Other
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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