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Abnormal circulating aromatic amino acid concentration

MedGen UID:
870891
Concept ID:
C4025352
Finding
Synonym: Abnormality of aromatic amino acid family metabolism
 
HPO: HP:0004338

Definition

Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. [from HPO]

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

Recent clinical studies

Etiology

Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK, Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D
Neurology 2021 Jan 19;96(3):e399-e411. Epub 2020 Oct 22 doi: 10.1212/WNL.0000000000011088. PMID: 33093221
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Poppe K, Velkeniers B, Glinoer D
Nat Clin Pract Endocrinol Metab 2008 Jul;4(7):394-405. Epub 2008 May 27 doi: 10.1038/ncpendmet0846. PMID: 18506157
Evered DC, Ormston BJ, Smith PA, Hall R, Bird T
Br Med J 1973 Mar 17;1(5854):657-62. doi: 10.1136/bmj.1.5854.657. PMID: 4120849Free PMC Article

Diagnosis

Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Mendoza A, Hollenberg AN
Pharmacol Ther 2017 May;173:135-145. Epub 2017 Feb 4 doi: 10.1016/j.pharmthera.2017.02.012. PMID: 28174093Free PMC Article
Vincent S, Robertson D
Clin Auton Res 2002 May;12 Suppl 1:I44-9. doi: 10.1007/s102860200018. PMID: 12102462
Després N, Grant AM
Clin Chem 1998 Mar;44(3):440-54. PMID: 9510847
Evered DC, Ormston BJ, Smith PA, Hall R, Bird T
Br Med J 1973 Mar 17;1(5854):657-62. doi: 10.1136/bmj.1.5854.657. PMID: 4120849Free PMC Article

Therapy

Caron P, Grunenwald S, Persani L, Borson-Chazot F, Leroy R, Duntas L
Rev Endocr Metab Disord 2022 Jun;23(3):463-483. Epub 2021 Oct 20 doi: 10.1007/s11154-021-09691-9. PMID: 34671932Free PMC Article
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Franklyn JA
Clin Endocrinol (Oxf) 2013 Jan;78(1):1-8. doi: 10.1111/cen.12011. PMID: 22891671
Franklyn JA, Daykin J, Betteridge J, Hughes EA, Holder R, Jones SR, Sheppard MC
Clin Endocrinol (Oxf) 1993 May;38(5):453-9. doi: 10.1111/j.1365-2265.1993.tb00339.x. PMID: 8330440
Chopra IJ, Hershman JM, Pardridge WM, Nicoloff JT
Ann Intern Med 1983 Jun;98(6):946-57. doi: 10.7326/0003-4819-98-6-946. PMID: 6407376

Prognosis

Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Mohapatra SR, Sadik A, Tykocinski LO, Dietze J, Poschet G, Heiland I, Opitz CA
Front Immunol 2019;10:2762. Epub 2019 Dec 4 doi: 10.3389/fimmu.2019.02762. PMID: 31866995Free PMC Article
Marras V, Casini MR, Pilia S, Carta D, Civolani P, Porcu M, Uccheddu AP, Loche S
Horm Res Paediatr 2010;73(3):193-7. Epub 2010 Mar 3 doi: 10.1159/000284361. PMID: 20197672
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
Chopra IJ, Hershman JM, Pardridge WM, Nicoloff JT
Ann Intern Med 1983 Jun;98(6):946-57. doi: 10.7326/0003-4819-98-6-946. PMID: 6407376

Clinical prediction guides

Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Dahl M, Ohrt JD, Fonvig CE, Kloppenborg JT, Pedersen O, Hansen T, Holm JC
J Clin Res Pediatr Endocrinol 2017 Mar 1;9(1):8-16. Epub 2016 Sep 9 doi: 10.4274/jcrpe.3319. PMID: 27611730Free PMC Article
Kahaly GJ, Kampmann C, Mohr-Kahaly S
Thyroid 2002 Jun;12(6):473-81. doi: 10.1089/105072502760143845. PMID: 12165109
Roti E, Gardini E, Magotti MG, Pilla S, Minelli R, Salvi M, Monica C, Maestri D, Cencetti S, Braverman LE
J Endocrinol Invest 1999 Mar;22(3):184-90. doi: 10.1007/BF03343539. PMID: 10219885

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