REMEDY : BNSSG referral pathways & Joint Formulary


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BNSSG Paediatric Joint Formulary

9.7 Metabolic disorders (continued 9.7.13 Onwards)

Last edited: 10-04-2024

9.7.13 Wilson's disease

Wilson's disease

Zinc acetate (TLS Amber 3 months) SCP needed

Penicillamine (TLS Red)

Tiopronin (TLS Red)

  • Named patient

Sodium dichloroacetate (TLS Red)

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

 

9.7.14 Hypoxaluria type1

Hypoxaluria type1

Lumasiran (TLS Red)

 

9.7.15 Guanidinoacetate methyltransferase (GAMT) deficiency

Guanidinoacetate methyltransferase (GAMT) deficiency

Creatine monohydrate (TLS Red)

L-ornithine (TLS Red)

 

9.7.16 Pyridox(am)ine 5' Phosphate deficiency

Pyridox(am)ine 5' Phosphate deficiency

Pyridoxal 5 phosphate (TLS Red)

 

9.7.17 Biotin Metabolism defects

Biotin Metabolism defects

Biotin (TLS Red)

 

9.7.18 Cobalamin disorders

Cobalamin disorders

Hydroxocobalamin intramuscular (10mg/2mL) (TLS Red)

 

9.7.19 Other

Other

Calcium folinate (folinic acid) (TLS Amber Specialist Recommmended)

 

9.7.20 Phenylketonuria

Phenylketonuria

Patients with phenylketonuria (PKU) are managed with low protein diet, including special low protein versions of common foods such as flour, bread and pasta which are not freely available other than on prescription.

ACBS indications for prescribing low protein foods include inherited metabolic disorders, renal or liver failure requiring a low protein diet. Thus prescribing low protein foods for individuals with PKU is in line with ACBS criteria.

Sapropterin dihydrochloride (TLS Red)

  • NICE TA729 Sapropterin for treating hyperphenylalaninaemia in phenylketonuria

 

9.7.21 Hypophosphatasia

Hypophosphatasia

Asfotase alfa (TLS Red)

  • NICE HST23 Asfotase alfa for treating paediatric-onset hypophosphatasia

 

9.7.22 Menkes disease

Menkes disease

Copper histidinate injection (TLS Red)

  • NHSE SCC2577 Subcutaneous copper histidinate injections for presymptomatic neonates with classical Menkes disease

 

9.7.23 Alpha-mannosidosis

Alpha-mannosidosis

Velmanase alfa (TLS Red)

  • NICE HST29 Velmanase alfa for treating alpha-mannosidosis

9.7.24 Wolman disease

Wolman disease

Sebelipase alfa (TLS Red)

  • NICE HST30 Sebelipase alfa for treating Wolman disease