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Elevated CSF dihydrobiopterin concentration

MedGen UID:
1053687
•Concept ID:
CN377519
•
Finding
HPO: HP:6000690

Definition

Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated CSF dihydrobiopterin concentration

Recent clinical studies

Etiology

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

Diagnosis

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

Therapy

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

Prognosis

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

Clinical prediction guides

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

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