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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

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
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
Classification criteria for autoinflammatory recurrent fevers.
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
X-linked adrenoleukodystrophy: pathogenesis and treatment.
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

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.
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

Insights into physiological roles of unique metabolites released from Plasmodium-infected RBCs and their potential as clinical biomarkers for malaria.
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
Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.
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
The significance of hyperpipecolatemia in Zellweger syndrome.
Dancis J, Hutzler J
Am J Hum Genet 1986 May;38(5):707-11. PMID: 3087161Free PMC Article
High-performance liquid chromatography of amino acids in urine and cerebrospinal fluid.
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

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.
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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