BNF for Children 2011-2012

BNFC 2011–2012 9.8.1 Drugs used in metabolic disorders 495Administration for administration by mouth, oralsolution or powder may be administered in fruitdrinks; less soluble in acidic drinksSodium Benzoate (Non-proprietary) ATablets, sodium benzoate 500 mgAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Capsules, sodium benzoate 50 mg; 250 mg; 400 mg;500 mgAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Oral solution, sodium benzoate 100 mg/mL;200 mg/mL; 300 mg/mLAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809PowderAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Injection, sodium benzoate 200 mg/mL, 5-mL ampNote Contains Na + 1.4 mmol /mLAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Administration for intravenous infusion, dilute to a concentrationof 20 mg/mL with Sodium Chloride 0.9% or 0.45%, or Glucose 5%or 10%; max. concentration 50 mg/mLSODIUM PHENYLBUTYRATECautions see notes above; congestive heart failure;interactions: Appendix 1 (sodium phenylbutyrate)Hepatic impairment manufacturer advises use withcautionRenal impairment manufacturer advises use withcaution; see also notes abovePregnancy avoid—toxicity in animal studies; manufactureradvises adequate contraception in women ofchild-bearing potentialBreast-feeding manufacturer advises avoid—noinformation availableSide-effects amenorrhoea and irregular menstrualcycles, decreased appetite, body odour, taste disturbances;less commonly nausea, vomiting, abdominalpain, peptic ulcer, pancreatitis, rectal bleeding,arrhythmia, oedema, syncope, depression, headache,rash, weight gain, renal tubular acidosis, aplasticanaemia, ecchymosesLicensed use injection not licensed for use in childrenIndication and doseAcute hyperammonaemia due to urea cycledisorders (specialist use only). By continuous intravenous infusionNeonate initially 250 mg/kg over 90 minutes followedby 20 mg/kg/hour adjusted according toresponseChild 1 month–18 years initially 250 mg/kg over90 minutes followed by 20 mg/kg/hour adjustedaccording to responseMaintenance treatment of hyperammonaemiadue to urea cycle disorders (specialist use only). By mouthNeonate 75–150 mg/kg 3–4 times daily, with foodChild 1 month–18 years 75–150 mg/kg 3–4times daily, with food (max. 20 g daily)Administration Oral dose may be mixed with fruitdrinks, milk, or feedsSodium Phenylbutyrate (Non-proprietary) AInjection, sodium phenylbutyrate 200 mg/mL, 5-mLampNote Contains Na + 1.1 mmol /mLAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Administration for intravenous infusion, dilute to a concentrationof 20 mg/mL (max. 50 mg/mL) with Glucose 5% or 10%Ammonaps c (Swedish Orphan) ATablets, sodium phenylbutyrate 500 mg. ContainsNa + 2.7 mmol/tablet. Net price 250-tab pack =£493.00Granules, sodium phenylbutyrate 940 mg/g. ContainsNa + 5.4 mmol/g. Net price 266-g pack = £860.00Note Granules should be mixed with food before takingOther metabolic disordersOther metabolic disorders and the drugs used in theirmanagement include:Amino acid disorders: maple syrup urine disease (thiaminesection 9.6.2); tyrosinaemia type III, hawkinsinuria(Vitamin C, section 9.6.3); tyrosinaemia type I (nitisinone).Mitochondrial disorders: isolated carboxylase defects,defects of biotin metabolism (biotin, see below); mitochondrialmyopathies (ubidecarenone); congenital lacticacidosis (riboflavin and thiamine, section 9.6.2); respiratorychain defects (thiamine, section 9.6.2); pyruvatedehydrogenase defects (sodium dichloroacetate)Neimann-Pick type C disease: miglustat is availablefor the treatment of progressive neurological manifestationsof Neimann-Pick type C disease, a neurodegenerativedisorder characterised by impaired intracellularlipid trafficking.Homocystinuria and defects in cobalamin metabolism:betaine, pyridoxine (section 9.6.2), hydroxocobalamin(section 9.1.2)Tetrahydrofolate reductase deficiency: betaine, folicacid (section 9.1.2)The Scottish Medicines Consortium (p. 3) has advised(July 2010) that betaine anhydrous (Cystadane c ) isaccepted for restricted use within NHS Scotland forthe adjunctive treatment of homocystinuria involvingdeficiencies or defects in cystathionine beta-synthase,5,10-methylene-tetrahydrofolate reductase, or cobalamincofactor metabolism in patients who are notresponsive to pyridoxine treatment.BETAINECautions monitor plasma-methionine concentrationbefore and during treatment—interrupt treatment ifsymptoms of cerebral oedema occurPregnancy manufacturer advises avoid unless essential—limitedinformation availableBreast-feeding manufacturer advises caution—noinformation availableSide-effects less commonly gastro-intestinal disorders,anorexia, reversible cerebral oedema (see Cautions),agitation, depression, personality disorder,sleep disturbances, urinary incontinence, alopecia,and urticaria9 Nutrition and blood