BNF for Children 2011-2012

496 9.8.1 Drugs used in metabolic disorders BNFC 2011–20129 Nutrition and bloodIndication and doseAdjunctive treatment of homocystinuria (specialistuse only). By mouthNeonate 50 mg/kg twice daily, dose and frequencyadjusted according to response; max.75 mg/kg twice dailyChild 1 month–10 years 50 mg/kg twice daily,dose and frequency adjusted according toresponse; max. 75 mg/kg twice dailyChild 10–18 years 3 g twice daily, adjustedaccording to response; max. 10 g twice dailyAdministration Powder should be mixed with water,juice, milk, formula, or food until completely dissolvedand taken immediately; measuring spoons are providedto measure 1 g, 150 mg, and 100 mg ofCystadane c powderBetaine (Non-proprietary) APowder (for oral solution), betaine anhydrous500 mg/mL when reconstituted.Available from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Tablets, betaine anhydrous 500 mgAvailable from ‘special-order’ manufacturers or specialistimporting companies, see p. 809Cystadane c (Orphan Europe) APowder, betaine (anhydrous), net price 180 g =£347.00BIOTIN(Vitamin H)Pregnancy no information availableBreast-feeding no information availableIndication and doseIsolated carboxylase defects. By mouth or by slow intravenous injectionNeonate 5 mg once daily, adjusted according toresponse; usual maintenance 10–50 mg daily,higher doses may be requiredChild 1 month–18 years 10 mg once daily,adjusted according to response; usual maintenance10–50 mg daily but up to 100 mg daily maybe requiredDefects of biotin metabolism. By mouth or by slow intravenous injectionNeonate 10 mg once daily adjusted according toresponse; usual maintenance 5–20 mg daily buthigher doses may be requiredChild 1 month–18 years 10 mg once dailyadjusted according to response; usual maintenance5–20 mg daily but higher doses may berequiredBiotin (Non-proprietary) ATablets, biotin 5 mg, 20-tab packInjection, biotin 5 mg/mLAvailable from ‘special order’ manufacturers or specialistimporting companies, see p. 809Administration For administration by mouth, tablets may becrushed and mixed with food or drinkMIGLUSTATCautions monitor cognitive and neurological function,growth, and platelet countHepatic impairment manufacturer advises caution—no information availableRenal impairment child 12–18 years, initially 200 mgtwice daily if estimated glomerular filtration rate 50–70 mL/minute/1.73 m 2 ; child 12–18 years, initially100 mg twice daily if estimated glomerular filtrationrate 30–50 mL/minute/1.73 m 2 ; avoid if estimatedglomerular filtration rate less than 30 mL/minute/1.73 m 2 ; child under 12 years—consult product literaturePregnancy manufacturer advises avoid (toxicity inanimal studies)—effective contraception must beused during treatment; also men should avoidfathering a child during and for 3 months after treatmentBreast-feeding manufacturer advises avoid—noinformation availableSide-effects diarrhoea, flatulence, abdominal pain,dyspepsia, constipation, nausea, vomiting, anorexia,weight changes; tremor, dizziness, headache, peripheralneuropathy, ataxia, hypoaesthesia, paraesthesia,insomnia, fatigue, asthenia; decreased libido; thrombocytopenia;muscle spasmIndication and doseNeimann-Pick type C disease (specialist supervisiononly). By mouthChild 4–12 yearsBody surface area less than 0.47 m 2 100 mgonce dailyBody surface area 0.47–0.73 m 2 100 mg twicedailyBody surface area 0.73–0.88 m 2 100 mg threetimes dailyBody surface area 0.88–1.25 m 2 200 mg twicedailyBody surface area greater than 1.25 m 2 200 mgthree times dailyChild 12–18 years 200 mg three times dailyZavesca c (Actelion) ACapsules, miglustat 100 mg, net price 84-cap pack =£3934.17 (hospital only)NITISINONE(NTBC)Cautions slit-lamp examination of eyes recommendedbefore treatment; monitor liver function regularly;monitor platelet and white blood cell count every 6monthsPregnancy manufacturer advises avoid unless potentialbenefit outweighs risk—toxicity in animal studiesBreast-feeding manufacturer advises avoid—adverseeffect in animal studiesSide-effects thrombocytopenia, leucopenia, granulocytopenia;conjunctivitis, photophobia, corneal opacity,keratitis, eye pain; less commonly leucocytosis,blepharitis, pruritus, exfoliative dermatitis, anderythematous rash