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Abnormal circulating branched chain amino acid concentration

MedGen UID:
1684836
•Concept ID:
C5139042
•
Finding
Synonym: Abnormality of branched chain family amino acid metabolism
 
HPO: HP:0010892

Definition

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

Conditions with this feature

Branched-chain keto acid dehydrogenase kinase deficiency
MedGen UID:
766992
•Concept ID:
C3554078
•
Disease or Syndrome
Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).
See: Condition Record
Branched-chain keto acid dehydrogenase kinase deficiency

Recent clinical studies

Etiology

Divergent Survival Outcomes Associated with Elevated Branched-Chain Amino Acid Levels among Older Adults with or without Hypertension and Diabetes: A Validated, Prospective, Longitudinal Follow-Up Study.
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
Serial measurement of growth-differentiation factor-15 in heart failure: relation to disease severity and prognosis in the Valsartan Heart Failure Trial.
Anand IS, Kempf T, Rector TS, Tapken H, Allhoff T, Jantzen F, Kuskowski M, Cohn JN, Drexler H, Wollert KC
Circulation 2010 Oct 5;122(14):1387-95. Epub 2010 Sep 20 doi: 10.1161/CIRCULATIONAHA.109.928846. PMID: 20855664
Estrogens do not affect whole-body protein metabolism in the prepubertal female.
Mauras N
J Clin Endocrinol Metab 1995 Oct;80(10):2842-5. doi: 10.1210/jcem.80.10.7559861. PMID: 7559861

Diagnosis

Serial measurement of growth-differentiation factor-15 in heart failure: relation to disease severity and prognosis in the Valsartan Heart Failure Trial.
Anand IS, Kempf T, Rector TS, Tapken H, Allhoff T, Jantzen F, Kuskowski M, Cohn JN, Drexler H, Wollert KC
Circulation 2010 Oct 5;122(14):1387-95. Epub 2010 Sep 20 doi: 10.1161/CIRCULATIONAHA.109.928846. PMID: 20855664

Therapy

Serial measurement of growth-differentiation factor-15 in heart failure: relation to disease severity and prognosis in the Valsartan Heart Failure Trial.
Anand IS, Kempf T, Rector TS, Tapken H, Allhoff T, Jantzen F, Kuskowski M, Cohn JN, Drexler H, Wollert KC
Circulation 2010 Oct 5;122(14):1387-95. Epub 2010 Sep 20 doi: 10.1161/CIRCULATIONAHA.109.928846. PMID: 20855664
Insulin effect on serum potassium and auto-inhibition of insulin secretion is intact in a patient with leprechaunism despite severe impairment of substrates metabolism.
Luzi L, Zoppini G, Targher G, Battezzati A, Muggeo M, Bonora E
Diabetes Metab Res Rev 2008 Mar-Apr;24(3):205-10. doi: 10.1002/dmrr.771. PMID: 17968975
Some aspects of the acute phase response after a marathon race, and the effects of glutamine supplementation.
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
The nutritional/metabolic and hormonal effects of 8 weeks of continuous ambulatory peritoneal dialysis with a 1% amino acid solution.
Arfeen S, Goodship TH, Kirkwood A, Ward MK
Clin Nephrol 1990 Apr;33(4):192-99. PMID: 2190721

Prognosis

Divergent Survival Outcomes Associated with Elevated Branched-Chain Amino Acid Levels among Older Adults with or without Hypertension and Diabetes: A Validated, Prospective, Longitudinal Follow-Up Study.
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
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K
J Clin Endocrinol Metab 2014 Jul;99(7):E1381-6. Epub 2014 Mar 19 doi: 10.1210/jc.2013-4077. PMID: 24646103Free PMC Article
Serial measurement of growth-differentiation factor-15 in heart failure: relation to disease severity and prognosis in the Valsartan Heart Failure Trial.
Anand IS, Kempf T, Rector TS, Tapken H, Allhoff T, Jantzen F, Kuskowski M, Cohn JN, Drexler H, Wollert KC
Circulation 2010 Oct 5;122(14):1387-95. Epub 2010 Sep 20 doi: 10.1161/CIRCULATIONAHA.109.928846. PMID: 20855664
Some aspects of the acute phase response after a marathon race, and the effects of glutamine supplementation.
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

Clinical prediction guides

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K
J Clin Endocrinol Metab 2014 Jul;99(7):E1381-6. Epub 2014 Mar 19 doi: 10.1210/jc.2013-4077. PMID: 24646103Free PMC Article
Metabolic abnormalities of apolipoprotein B-containing lipoproteins in non-insulin-dependent diabetes: a stable isotope kinetic study.
Duvillard L, Pont F, Florentin E, Galland-Jos C, Gambert P, Vergès B
Eur J Clin Invest 2000 Aug;30(8):685-94. PMID: 10964160
Estrogens do not affect whole-body protein metabolism in the prepubertal female.
Mauras N
J Clin Endocrinol Metab 1995 Oct;80(10):2842-5. doi: 10.1210/jcem.80.10.7559861. PMID: 7559861
Importance of raised growth hormone levels in mediating the metabolic derangements of diabetes.
Press M, Tamborlane WV, Sherwin RS
N Engl J Med 1984 Mar 29;310(13):810-5. doi: 10.1056/NEJM198403293101302. PMID: 6700669

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