Chapter title |
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria
|
---|---|
Chapter number | 63 |
Book title |
JIMD Reports, Volume 40
|
Published in |
JIMD Reports, January 2017
|
DOI | 10.1007/8904_2017_63 |
Pubmed ID | |
Book ISBNs |
978-3-66-257879-7, 978-3-66-257880-3
|
Authors |
S. Doyle, M. O’Regan, C. Stenson, J. Bracken, U. Hendroff, A. Agasarova, D. Deverell, E. P. Treacy, Doyle, S., O’Regan, M., Stenson, C., Bracken, J., Hendroff, U., Agasarova, A., Deverell, D., Treacy, E. P. |
Abstract |
Adherence to dietary and treatment recommendations is a long-standing concern for adults and adolescents with PKU and treating clinicians. In about 20-30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10-20 mg/kg/day.We report four young Irish patients with mild PKU, known to be BH4 responsive, who were treated with lower doses of Sapropterin for over 7 years.Case 1: Female, currently age 20. Genotype p. 165T/p/F39L, c.[194T>C]; [117C>G]. Newborn Phe: 851 μmol/L. Pre-Sapropterin Phe tolerance: 600 mg Phe/day to maintain Phe levels <400 μmol/L. Commenced on Sapropterin 400 mg (6.5 mg/kg/day) with increase in Phe tolerance to 800 mg/day.Case 2: Female, currently age 23. Genotype p. 165T/pF39L; c.[194T>C]; [117C>G]. Newborn Phe: 714 μmol/L. Pre-Sapropterin Phe tolerance: 700 mg Phe/day. Commenced on Sapropterin 400 mg (8 mg/kg/day) with increase in Phe tolerance to 800 mg/day.Case 3: Male, currently age 22. Genotype p. 165T/p.S349P; c.[194T>C][1045T>C]. Newborn Phe: 1,036 μmol/L. Pre-Sapropterin Phe tolerance: 600 mg Phe/day. Commenced on Sapropterin 400 mg (5.4 mg/kg/day). Increased to 1,600 mg Phe/day.Case 4: Female, currently age 29. Genotype p.R408W/p/p.Y414C; c.[1222C>T], [1241A>G]. Newborn Phe: 1,600 μmol/L. Pre-Sapropterin tolerance: 450 mg/day. Commenced on Sapropterin 400 mg (5.0 mg/kg/day). Increased to 900 mg Phe/day.Almost 7 years of surveillance for these four patients has shown that this dose of Sapropterin (range 5-8 mg/kg day) was well tolerated and effective with a significant response to treatment and a marked improvement in quality of life at these lower Sapropterin doses. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 9 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 2 | 22% |
Student > Ph. D. Student | 1 | 11% |
Unspecified | 1 | 11% |
Other | 1 | 11% |
Student > Doctoral Student | 1 | 11% |
Other | 0 | 0% |
Unknown | 3 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 2 | 22% |
Biochemistry, Genetics and Molecular Biology | 1 | 11% |
Unspecified | 1 | 11% |
Psychology | 1 | 11% |
Nursing and Health Professions | 1 | 11% |
Other | 0 | 0% |
Unknown | 3 | 33% |