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Active Ageing - South Glos Advice and guidance - Care of the Elderly Assistive Technology Service Falls & Balance Fracture Liaison Service Frailty Hearing Services Live Longer Better Movement Disorders NHS@home - Frailty pathway Rapid Assessment Clinic For Older People
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Community Diabetes Specialist Service Diabetes & Nutrition Diabetes Advice and Guidance Diabetes Foot Care Diabetes Mellitus - Guidelines Diabetes self-management Diabetes Structured Education Diabetic Eye Screening Monogenic Diabetes Neuropathic Pain (Diabetic) Non-diabetic Hyperglycaemia and the National Diabetes Prevention Program Pregnancy and diabetes Rapid Access Diabetes Clinic Type 2 diabetes management Type 2 Path to Remission Programme
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Advice & Guidance Service Local Services Malnutrition & Oral Nutritional Supplements Vitamin D Deficiency Weight management
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Alcohol Misuse Opiate Dependence Non-opiate drug dependence Bristol Drug and Alcohol Service North Somerset Drug & Alcohol Service South Gloucestershire Drug & Alcohol Service Bristol Shared Care Breaking Free (Bristol & South Glos)
DVT and PE
DVT and SVT Pathway Pulmonary Embolus (suspected) Secondary Care DVT Services Unprovoked DVT
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Bristol Centre for Enablement Wheelchair Services
End of Life Care and Hospice
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ENT
Advice & Guidance Service Anosmia Audiology (adult) Dizziness and Vertigo Ear wax and microsuction ENT HOT Clinic Epistaxis Hearing Problems Middle ear problems Moulded Ear Plugs Nasal Treatment Neck Lumps (including Goitre) Otitis Externa Rhinosinusitis & Nasal Polyps Snoring Speech & Language Tinnitus Tonsils Uvula
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1. Gastro-intestinal System 2. Cardiovascular system 3. Respiratory System 4. Nervous system 5. Infections 6. Endocrine system 7. Obstetrics, gynaecology, and urinary-tract disorders 8. Malignant Disease and Immunosuppression 9. Nutrition and Blood 10. Musculoskeletal and joint diseases 11. Eye 12. Ear, Nose and Oropharynx 13. Skin 14. Immunological products and vaccines 15. Anaesthesia 16. Palliative Care 17. Miscellaneous Preparations
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Home > Formulary : Paediatric > Paediatric Chapters > 9. Nutrition and Blood >

BNSSG Paediatric Joint Formulary

9.7 Metabolic disorders (continued 9.7.13 Onwards)

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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