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 | 250 mg capsules | |
Primaquine phosphate | Malaria | 3.0 P* | 500 μg/kg and 250 μg/kg daily for 14 days | 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 | 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 |