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Abnormal circulating amino acid concentration

MedGen UID:
871177
Concept ID:
C4025653
Finding
Synonym: Abnormality of serum amino acid levels
 
HPO: HP:0003112

Definition

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating amino acid concentration

Conditions with this feature

Leukocyte adhesion deficiency type II
MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.
CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).

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
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Clin Sci (Lond) 1985 Oct;69(4):449-57. doi: 10.1042/cs0690449. PMID: 4042546

Recent clinical studies

Etiology

Geng TT, Chen JX, Lu Q, Wang PL, Xia PF, Zhu K, Li Y, Guo KQ, Yang K, Liao YF, Zhou YF, Liu G, Pan A
Am J Kidney Dis 2024 Jan;83(1):9-17. Epub 2023 Sep 9 doi: 10.1053/j.ajkd.2023.05.014. PMID: 37678743
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
Durham WJ, Foreman JP, Randolph KM, Danesi CP, Spratt H, Masel BD, Summons JR, Singh CK, Morrison M, Robles C, Wolfram C, Kreber LA, Urban RJ, Sheffield-Moore M, Masel BE
J Neurotrauma 2017 Jan 15;34(2):385-390. Epub 2016 Jun 16 doi: 10.1089/neu.2015.4350. PMID: 27178787
Atzeni F, Turiel M, Boccassini L, Sitia S, Tomasoni L, Battellino M, Marchesoni A, De Gennaro Colonna V, Sarzi-Puttini P
Reumatismo 2011 Nov 9;63(3):148-54. doi: 10.4081/reumatismo.2011.148. PMID: 22257915
Saraiva MJ, Costa PP, Goodman DS
J Lab Clin Med 1983 Oct;102(4):590-603. PMID: 6311926

Diagnosis

van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM
Circulation 2022 Feb 22;145(8):606-619. Epub 2022 Feb 3 doi: 10.1161/CIRCULATIONAHA.121.054347. PMID: 35113653Free PMC Article
Taneja K, Taneja J, Kaur C, Patel S, Haldar D
Clin Lab 2020 Oct 1;66(10) doi: 10.7754/Clin.Lab.2020.200120. PMID: 33073941
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
Durham WJ, Foreman JP, Randolph KM, Danesi CP, Spratt H, Masel BD, Summons JR, Singh CK, Morrison M, Robles C, Wolfram C, Kreber LA, Urban RJ, Sheffield-Moore M, Masel BE
J Neurotrauma 2017 Jan 15;34(2):385-390. Epub 2016 Jun 16 doi: 10.1089/neu.2015.4350. PMID: 27178787
Després N, Grant AM
Clin Chem 1998 Mar;44(3):440-54. PMID: 9510847

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
Atzeni F, Turiel M, Boccassini L, Sitia S, Tomasoni L, Battellino M, Marchesoni A, De Gennaro Colonna V, Sarzi-Puttini P
Reumatismo 2011 Nov 9;63(3):148-54. doi: 10.4081/reumatismo.2011.148. PMID: 22257915
Coppola A, Davi G, De Stefano V, Mancini FP, Cerbone AM, Di Minno G
Semin Thromb Hemost 2000;26(3):243-54. doi: 10.1055/s-2000-8469. PMID: 11011842

Prognosis

Fung E, Ng KH, Kwok T, Lui LT, Palaniswamy S, Chan Q, Lim LL, Wiklund P, Xie S, Turner C, Elshorbagy AK, Refsum H, Leung JCS, Kong APS, Chan JCN, Järvelin MR, Woo J
Biomolecules 2023 Aug 16;13(8) doi: 10.3390/biom13081252. PMID: 37627317Free PMC Article
Taneja K, Taneja J, Kaur C, Patel S, Haldar D
Clin Lab 2020 Oct 1;66(10) doi: 10.7754/Clin.Lab.2020.200120. PMID: 33073941
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
Quinlivan EP, Gregory JF 3rd
Am J Clin Nutr 2003 Jan;77(1):221-5. doi: 10.1093/ajcn/77.1.221. PMID: 12499345
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

Geng TT, Chen JX, Lu Q, Wang PL, Xia PF, Zhu K, Li Y, Guo KQ, Yang K, Liao YF, Zhou YF, Liu G, Pan A
Am J Kidney Dis 2024 Jan;83(1):9-17. Epub 2023 Sep 9 doi: 10.1053/j.ajkd.2023.05.014. PMID: 37678743
Taneja K, Taneja J, Kaur C, Patel S, Haldar D
Clin Lab 2020 Oct 1;66(10) doi: 10.7754/Clin.Lab.2020.200120. PMID: 33073941
Quinlivan EP, Gregory JF 3rd
Am J Clin Nutr 2003 Jan;77(1):221-5. doi: 10.1093/ajcn/77.1.221. PMID: 12499345
Clemmesen O
Dan Med Bull 2002 Aug;49(3):177-93. PMID: 12238280
Saraiva MJ, Costa PP, Goodman DS
J Lab Clin Med 1983 Oct;102(4):590-603. PMID: 6311926

Recent systematic reviews

Oussalah A, Levy J, Filhine-Trésarrieu P, Namour F, Guéant JL
Am J Clin Nutr 2017 Oct;106(4):1142-1156. Epub 2017 Aug 16 doi: 10.3945/ajcn.117.156349. PMID: 28814397Free PMC Article
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468

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