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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