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Hyperpipecolatemia

MedGen UID:
79469
Concept ID:
C0282526
Disease or Syndrome
Synonym: Hyperpipecolic Acidemia
SNOMED CT: Hyperpipecolic acidemia (88469006); Pipecolic acidemia (13306007)
 
Orphanet: ORPHA34

Definition

A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperpipecolatemia

Professional guidelines

PubMed

Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

Al-Essa MA, Chaves-Carballo E, Ozand PT
Pediatr Neurol 1999 Nov;21(5):826-9. doi: 10.1016/s0887-8994(99)00085-5. PMID: 10593675

Diagnosis

Beri D, Ramdani G, Balan B, Gadara D, Poojary M, Momeux L, Tatu U, Langsley G
Sci Rep 2019 Feb 27;9(1):2875. doi: 10.1038/s41598-018-37816-9. PMID: 30814599Free PMC Article
Al-Essa MA, Chaves-Carballo E, Ozand PT
Pediatr Neurol 1999 Nov;21(5):826-9. doi: 10.1016/s0887-8994(99)00085-5. PMID: 10593675
Dancis J, Hutzler J
Am J Hum Genet 1986 May;38(5):707-11. PMID: 3087161Free PMC Article
Lam S, Azumaya H, Karmen A
J Chromatogr 1984 Oct 19;302:21-9. doi: 10.1016/s0021-9673(01)88995-0. PMID: 6501504

Clinical prediction guides

Al-Essa MA, Chaves-Carballo E, Ozand PT
Pediatr Neurol 1999 Nov;21(5):826-9. doi: 10.1016/s0887-8994(99)00085-5. PMID: 10593675

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