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Table 3 Overview of the OAIs included in current study

From: Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases

  Orphan disease Prevalence (/100.000) or number of published cases [15] Recommended dose Reference Developed dosage form with OAI concentration (solutions) or OAI mass per dosage unit (capsules)
L-arginine, sodium benzoate, sodium phenylbutyrate Hyperammonemia: carbamoyl Phosphate synthase deficiency 0.31P L-arginine: < 20 kg: 100–200 mg/kg/day; > 20 kg: 2.5–6 g/m2/day (max. 6 g/day)
Sodium benzoate: up to 250 mg/kg/day (max. 12 g/day)
Sodium phenylbutyrate: < 20 kg: ≤ 250 mg/kg/day; > 20 kg: 5 g/m2/day (maximum: 12 g/day)
[17] L-arginine: 10 g/100 ml solution
Sodium benzoate: 10 g/100 ml solution
Sodium phenylbutyrate: 20 g/100 ml solution
Hyperammonemia: ornithine transcarbamylase deficiency 1.4P*
Hyperammonemia: citrillinaemia or argininosuccinate synthase deficiencyHyperammonemia: argininosuccinic aciduria or argininosuccinate lyase deficiency 2.4P*1.0P* L-arginine: < 20 kg: 100–300 mg/kg/day; > 20 kg: 2.5–6 g/m2/day (max. 6 g/day)
Sodium benzoate: up to 250 mg/kg/day (max. 12 g/day)Sodium phenylbutyrate: < 20 kg: ≤ 250 mg/kg/day; > 20 kg: 5 g/m2/day (maximum: 12 g/day)
[17]
Hyperammonemia due to N-acetylglutamate synthase deficiency 12a L-arginine: < 20 kg: 100–200 mg/kg/day; > 20 kg: 2.5–6 g/m2/day (max. 6 g/day)
Sodium benzoate: up to 250 mg/kg/day (max. 12 g/day)
[17]
L-carnitine Carnitine palmitoyl transferase1A deficiency 50 cases N.A.   20 g/100 ml solution
Carnitine-acylcarnitine translocase deficiency 60 cases N.A.  
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 3.2 BPa 100 mg/kg/day [18]
Systemic primary carnitine deficiency 6.85 P 100–400 mg/kg/day [19]
Sodium Benzoate Non-ketotic hyperglycemia Glycine encephalopathy 0.17 P* 250–750 mg/kg/day [20] 10 g/100 ml solution
Chenodesoxycholic acid Cerebrotendinous xanthomatosis < 5 P 750 mg/day [21, 22] 250 mg capsules
Primaquine phosphate Malaria 3.0 P* 500 μg/kg and 250 μg/kg daily for 14 days [23,24,25,26] 30 mg capsules
Pneumocystis carinii pneumonia N.A. 15 mg/day
Pyridoxal phosphate Pyridoxamine 5′-oxidase deficiency 0.2 P* 30 – 50 mg/kg/day [27, 28] 10 mg capsules
Sodium perchloratea Prophylactic thyroid protection during radiological examination using iodine contrast agents N.A. 1 g/day [29] 50 mg/ml solution
  1. Overview of the OAIs included in current study, the corresponding orphan diseases, overall prevalence worldwide (P) or in Europe (P*), birth prevalence worldwide (BP) or number of published cases, recommended dose and dose of compounded formulation (N.A.: data not available). aSodium perchlorate is not an OAI but was included in the study as an unlicensed molecule regularly compounded by hospital pharmacists for extemporaneous use