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Abnormal circulating neopterin concentration

MedGen UID:
892970
Concept ID:
C4073154
Finding
Synonym: Abnormal level of neopterin
 
HPO: HP:0040206

Definition

Any deviation from the normal concentration of neopterin in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating neopterin concentration

Conditions with this feature

Dopa-responsive dystonia due to sepiapterin reductase deficiency
MedGen UID:
120642
Concept ID:
C0268468
Disease or Syndrome
The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time.

Professional guidelines

PubMed

Christensen MH, Pedersen EK, Nordbø Y, Varhaug JE, Midttun Ø, Ueland PM, Nygård OK, Mellgren G, Lien EA
J Intern Med 2012 Dec;272(6):583-91. Epub 2012 Aug 5 doi: 10.1111/j.1365-2796.2012.02570.x. PMID: 22757621
Zwingenberger K, Harms G, Feldmeier H, Müller O, Steiner A, Bienzle U
Acta Trop 1988 Sep;45(3):263-75. PMID: 2903628

Recent clinical studies

Etiology

Reininghaus EZ, McIntyre RS, Reininghaus B, Geisler S, Bengesser SA, Lackner N, Hecht K, Birner A, Kattnig F, Unterweger R, Kapfhammer HP, Zelzer S, Fuchs D, Mangge H
Bipolar Disord 2014 Jun;16(4):432-40. Epub 2013 Dec 12 doi: 10.1111/bdi.12166. PMID: 24330408
Rubaj A, Rucinski P, Kutarski A, Dabrowska-Kugacka A, Oleszczak K, Zimon B, Trojnar M, Zapolski T, Drozd J, Tarkowski A, Wysokinski A
J Interv Card Electrophysiol 2013 Aug;37(2):147-54. Epub 2013 Apr 28 doi: 10.1007/s10840-013-9792-8. PMID: 23625090Free PMC Article
Christensen MH, Pedersen EK, Nordbø Y, Varhaug JE, Midttun Ø, Ueland PM, Nygård OK, Mellgren G, Lien EA
J Intern Med 2012 Dec;272(6):583-91. Epub 2012 Aug 5 doi: 10.1111/j.1365-2796.2012.02570.x. PMID: 22757621
Herold M, Meise U, Günther V, Rössler H, Zangerle R
Presse Med 1994 Dec 17;23(40):1854-8. PMID: 7899316
Sinicco A, Biglino A, Sciandra M, Forno B, Pollono AM, Raiteri R, Gioannini P
AIDS 1993 Sep;7(9):1167-72. doi: 10.1097/00002030-199309000-00003. PMID: 8216972

Diagnosis

Rubaj A, Rucinski P, Kutarski A, Dabrowska-Kugacka A, Oleszczak K, Zimon B, Trojnar M, Zapolski T, Drozd J, Tarkowski A, Wysokinski A
J Interv Card Electrophysiol 2013 Aug;37(2):147-54. Epub 2013 Apr 28 doi: 10.1007/s10840-013-9792-8. PMID: 23625090Free PMC Article

Therapy

Rubaj A, Rucinski P, Kutarski A, Dabrowska-Kugacka A, Oleszczak K, Zimon B, Trojnar M, Zapolski T, Drozd J, Tarkowski A, Wysokinski A
J Interv Card Electrophysiol 2013 Aug;37(2):147-54. Epub 2013 Apr 28 doi: 10.1007/s10840-013-9792-8. PMID: 23625090Free PMC Article
Reimund JM, Duclos B, Arondel Y, Baumann R
Nutrition 2001 Apr;17(4):300-4. doi: 10.1016/s0899-9007(00)00583-9. PMID: 11369168
Castell LM, Poortmans JR, Leclercq R, Brasseur M, Duchateau J, Newsholme EA
Eur J Appl Physiol Occup Physiol 1997;75(1):47-53. doi: 10.1007/s004210050125. PMID: 9007457
Zwingenberger K, Harms G, Feldmeier H, Müller O, Steiner A, Bienzle U
Acta Trop 1988 Sep;45(3):263-75. PMID: 2903628

Prognosis

Reininghaus EZ, McIntyre RS, Reininghaus B, Geisler S, Bengesser SA, Lackner N, Hecht K, Birner A, Kattnig F, Unterweger R, Kapfhammer HP, Zelzer S, Fuchs D, Mangge H
Bipolar Disord 2014 Jun;16(4):432-40. Epub 2013 Dec 12 doi: 10.1111/bdi.12166. PMID: 24330408
Leblhuber F, Walli J, Jellinger K, Tilz GP, Widner B, Laccone F, Fuchs D
Clin Chem Lab Med 1998 Oct;36(10):747-50. doi: 10.1515/CCLM.1998.132. PMID: 9853799
Castell LM, Poortmans JR, Leclercq R, Brasseur M, Duchateau J, Newsholme EA
Eur J Appl Physiol Occup Physiol 1997;75(1):47-53. doi: 10.1007/s004210050125. PMID: 9007457
Sinicco A, Biglino A, Sciandra M, Forno B, Pollono AM, Raiteri R, Gioannini P
AIDS 1993 Sep;7(9):1167-72. doi: 10.1097/00002030-199309000-00003. PMID: 8216972

Clinical prediction guides

Reininghaus EZ, McIntyre RS, Reininghaus B, Geisler S, Bengesser SA, Lackner N, Hecht K, Birner A, Kattnig F, Unterweger R, Kapfhammer HP, Zelzer S, Fuchs D, Mangge H
Bipolar Disord 2014 Jun;16(4):432-40. Epub 2013 Dec 12 doi: 10.1111/bdi.12166. PMID: 24330408
Christensen MH, Pedersen EK, Nordbø Y, Varhaug JE, Midttun Ø, Ueland PM, Nygård OK, Mellgren G, Lien EA
J Intern Med 2012 Dec;272(6):583-91. Epub 2012 Aug 5 doi: 10.1111/j.1365-2796.2012.02570.x. PMID: 22757621

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