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Elevated CSF tetrahydrobiopterin level

MedGen UID:
1863689
•Concept ID:
C5937543
•
Finding
HPO: HP:6000822

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated CSF tetrahydrobiopterin level

Professional guidelines

PubMed

The basis for folinic acid treatment in neuro-psychiatric disorders.
Ramaekers VT, Sequeira JM, Quadros EV
Biochimie 2016 Jul;126:79-90. Epub 2016 Apr 8 doi: 10.1016/j.biochi.2016.04.005. PMID: 27068282

Recent clinical studies

Etiology

Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria.
Rubach MP, Mukemba JP, Florence SM, Lopansri BK, Hyland K, Simmons RA, Langelier C, Nakielny S, DeRisi JL, Yeo TW, Anstey NM, Weinberg JB, Mwaikambo ED, Granger DL
J Infect Dis 2021 Oct 28;224(8):1432-1441. doi: 10.1093/infdis/jiab086. PMID: 33617646Free PMC Article
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354
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
Decrease in 6R-5,6,7,8-tetrahydrobiopterin content in cerebrospinal fluid of autistic patients.
Tani Y, Fernell E, Watanabe Y, Kanai T, Långström B
Neurosci Lett 1994 Nov 7;181(1-2):169-72. doi: 10.1016/0304-3940(94)90586-x. PMID: 7898761

Diagnosis

Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria.
Rubach MP, Mukemba JP, Florence SM, Lopansri BK, Hyland K, Simmons RA, Langelier C, Nakielny S, DeRisi JL, Yeo TW, Anstey NM, Weinberg JB, Mwaikambo ED, Granger DL
J Infect Dis 2021 Oct 28;224(8):1432-1441. doi: 10.1093/infdis/jiab086. PMID: 33617646Free PMC Article
The basis for folinic acid treatment in neuro-psychiatric disorders.
Ramaekers VT, Sequeira JM, Quadros EV
Biochimie 2016 Jul;126:79-90. Epub 2016 Apr 8 doi: 10.1016/j.biochi.2016.04.005. PMID: 27068282
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354
Disorders of biopterin metabolism.
Longo N
J Inherit Metab Dis 2009 Jun;32(3):333-42. Epub 2009 Feb 9 doi: 10.1007/s10545-009-1067-2. PMID: 19234759
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

The basis for folinic acid treatment in neuro-psychiatric disorders.
Ramaekers VT, Sequeira JM, Quadros EV
Biochimie 2016 Jul;126:79-90. Epub 2016 Apr 8 doi: 10.1016/j.biochi.2016.04.005. PMID: 27068282
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354
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
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y
Brain Dev 2008 Jan;30(1):82-5. Epub 2007 Jun 27 doi: 10.1016/j.braindev.2007.05.011. PMID: 17590551
Administration of secretin for autism alters dopamine metabolism in the central nervous system.
Toda Y, Mori K, Hashimoto T, Miyazaki M, Nozaki S, Watanabe Y, Kuroda Y, Kagami S
Brain Dev 2006 Mar;28(2):99-103. Epub 2005 Sep 15 doi: 10.1016/j.braindev.2005.05.005. PMID: 16168596

Prognosis

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N
Mol Genet Metab 2020 Dec;131(4):380-389. Epub 2020 Nov 18 doi: 10.1016/j.ymgme.2020.11.004. PMID: 33234470Free PMC Article
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
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y
Brain Dev 2008 Jan;30(1):82-5. Epub 2007 Jun 27 doi: 10.1016/j.braindev.2007.05.011. PMID: 17590551

Clinical prediction guides

Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria.
Rubach MP, Mukemba JP, Florence SM, Lopansri BK, Hyland K, Simmons RA, Langelier C, Nakielny S, DeRisi JL, Yeo TW, Anstey NM, Weinberg JB, Mwaikambo ED, Granger DL
J Infect Dis 2021 Oct 28;224(8):1432-1441. doi: 10.1093/infdis/jiab086. PMID: 33617646Free PMC Article
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N
Mol Genet Metab 2020 Dec;131(4):380-389. Epub 2020 Nov 18 doi: 10.1016/j.ymgme.2020.11.004. PMID: 33234470Free PMC Article
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
Administration of secretin for autism alters dopamine metabolism in the central nervous system.
Toda Y, Mori K, Hashimoto T, Miyazaki M, Nozaki S, Watanabe Y, Kuroda Y, Kagami S
Brain Dev 2006 Mar;28(2):99-103. Epub 2005 Sep 15 doi: 10.1016/j.braindev.2005.05.005. PMID: 16168596
Decrease in 6R-5,6,7,8-tetrahydrobiopterin content in cerebrospinal fluid of autistic patients.
Tani Y, Fernell E, Watanabe Y, Kanai T, Långström B
Neurosci Lett 1994 Nov 7;181(1-2):169-72. doi: 10.1016/0304-3940(94)90586-x. PMID: 7898761

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