Nitisinone Suspension (4 mg/ml - 90 ml bottle) and capsules x 2, 5, 10 and 20 mg (NTBC, Orfadin) (ORFADIN ® prevents the accumulation of the toxic substances, thereby rendering patients symptom-free and improve prognosis. Treatment of hereditary tyrosinemia type 1 with Orfadin® in the last decade has dramatically altered its natural history.
During 2016, Orfadin Oral Suspension and Orfadin 20 mg capsules were approved by FDA.
http://www.orfadin.com
Dietary Management https://www.nestlehealthscience.us/vitaflo-usa/inborn-errors-of-metabolism/protein-metabolism/tyrosinemia
Cystadane ®: 1 bottle x 180 grs of powder. Betaine (Cystadane) acts as a methyl group donor in the re-methylation of homocysteine to methionine in patients with homocystinuria and thereby reduces homocyteine levels.
Dietary Management https://www.nestlehealthscience.us/vitaflo-usa/inborn-errors-of-metabolism/protein-metabolism/homocystinuria
Acute Management
Our company imports and distributes:
• IV Formulations (arginine, sodium phenylbutyrate and sodium benzoate) formulations
• Carbaglu® (N-acetylglutamate) is used for the treatment of acute hyperammonemia (high blood levels of ammonia) in patients with the following metabolic diseases:
- N-acetylglutamate synthase (NAGS) deficiency. Patients with this lifelong disease lack a liver enzyme called NAGS, which normally helps to break down ammonia. If the enzyme is not present, ammonia cannot be broken down and it builds up in the blood;
- Some organic acidaemias (isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia) where patients lack certain enzymes involved in protein metabolism;
- Carbaglu can also reduce ammonium levels in patients without a metabolic diagnosis or with urea cycle disorders. https://www.carbaglu.net/
- Ammonul ® includes Sodium phenylbutyrate + Sodium benzoate, injectable 10%/10%.
Chronic Management
• Sodium phenylbutyrate, Buphenyl ® tablets (250 x 500 mg), Powder (250 g): (Buphenyl acts as a ammonium scavenger by creating an alternate pathway to excrete nitrogen precursors.
Phenylacetate combines with glutamine to form phenylacetylglutamine and benzoate combines with glycine to form hippurate. These conjugation products are water-soluble and are excreted in the urine. Buphenyl is indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders involving deficiencies in enzymes of the urea cycle disorders involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinc acid synthetase.
http://www.horizonpharma.com/medicines/rare-diseases/buphenyl/
• Sodium benzoate in tablets (100 x 500 mg), powder (250 g) or injectable (2 g/10 ml x 10 amp) may be used.
• Ravicti ®, Glycerol phenylbutyrate is a pre-prodrug of phenylacetate. It requires pancreatic lipase conversion into phenylbutyrate, which is then oxidized into phenylacetate. Thus, it acts as a slow release form of sodium phenylbutyrate, achieving more stable control of ammonia levels over a 24 hour period than Buphenyl (phenylbutyrate) and sodium benzoate. Thus, Ravicti is the most efficient medication for chronic control of ammonium levels. In addition, it may offer advantages with regards to tolerability and palatability, since it is a colorless and tasteless oil with no sodium content.
http://www.horizonpharma.com/medicines/rare-diseases/ravicti/
• Supplementation may be required with L-Arginine Powder (100 g), oral solution 100mg/200 ml, Tablets (100 x 500 mg) or injectable (5 g/10 ml x 10 amp) and/or L-Citrulline Powder 100g
• Essential aminoacids (diet management) through reliable formulations
https://www.nestlehealthscience.us/vitaflo-usa/inborn-errors-of-metabolism/protein-metabolism/urea-cycle-disorders
Dietary Supplements:
https://www.nestlehealthscience.co.uk/vitaflo/conditions/protein%20metabolism/urea%20cycle%20disorders/home
Carbaglu ® (N-acetylglutamate) is used for the treatment of acute hyperammonemia (high blood levels of ammonia) in patients with the following metabolic diseases:
- N-acetylglutamate synthase (NAGS) deficiency. Patients with this lifelong disease lack a liver enzyme called NAGS, which normally helps to break down ammonia. If the enzyme is not present, ammonia cannot be broken down and it builds up in the blood;
- Some organic acidaemias (isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia) where patients lack certain enzymes involved in protein metabolism;
- Carbaglu can also reduce ammonium levels in patients without a metabolic diagnosis or with urea cycle disorders. https://www.carbaglu.net/
Essential aminoacids (diet management) through reliable formulations:
https://www.nestlehealthscience.us/vitaflo-usa/inborn-errors-of-metabolism/protein-metabolism/urea-cycle-disorders