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Elevated CSF sepiapterin concentration

MedGen UID:: 1053547
•Concept ID:: CN378327
•: Finding

HPO:	HP:6000975

Definition

Concentration of sepiapterin in the cerebrospinal fluid (CSF) below the lower limit of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated CSF sepiapterin concentration

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Morphological central nervous system abnormality
    - Abnormal cerebrospinal fluid morphology
      - Abnormal CSF metabolite concentration
        Abnormal CSF pterin concentration
        Elevated CSF sepiapterin concentration

Recent clinical studies

Etiology

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, Mimaki M, Watanabe K, Kumagai T, Kobayashi K
Clin Chim Acta 2022 Sep 1;534:167-172. Epub 2022 Aug 1 doi: 10.1016/j.cca.2022.07.016. PMID: 35926683

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

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, Mimaki M, Watanabe K, Kumagai T, Kobayashi K
Clin Chim Acta 2022 Sep 1;534:167-172. Epub 2022 Aug 1 doi: 10.1016/j.cca.2022.07.016. PMID: 35926683

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

Supplemental Content

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