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Summary
TREATMENT/THERAPY: SAPROPTERIN (BH4) EXTERNAL
KUVAN (R)
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
Kuvan (R) is a phenylalanine hydroxylase activator indicated to reduce blood phenylalanine (Phe) leve Is in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) responsive Phenylketonuria (PKU). Kuvan contains Mannitol.
symptoms
onset, adolescent
onset, childhood
laboratory finding
D-Mannitol mmol/mol Creaurine
Literature
Loennqvist TIOSCA - Infantile onset spinocerebellar ataxiaDuodecim127141460-14692011
Pierce SB,et al.Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive diseaseCold Spring Harb Mol Case Stud24a0022072016