Home > Formulary : Paediatric > Paediatric Chapters > 9. Nutrition and Blood >
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)
Sodium dichloroacetate (TLS Red)
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