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Hypohomocysteinemia

MedGen UID:
1611787
Concept ID:
C4540295
Finding
Synonym: Lower blood homocysteine
 
HPO: HP:0020222

Definition

A decreased concentration of homocysteine in the blood. [from HPO]

Conditions with this feature

Immunodeficiency, developmental delay, and hypohomocysteinemia
MedGen UID:
1616061
Concept ID:
C4540293
Disease or Syndrome
IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Recent clinical studies

Etiology

Bae JB, Han JW, Song J, Lee K, Kim TH, Kwak KP, Kim BJ, Kim SG, Kim JL, Moon SW, Park JH, Ryu SH, Youn JC, Lee DY, Lee DW, Lee SB, Lee JJ, Jhoo JH, Kim KW
Clin Nutr 2021 Jul;40(7):4579-4584. Epub 2021 Jun 9 doi: 10.1016/j.clnu.2021.05.034. PMID: 34229262
Jana L, Maity PP, Perveen H, Dash M, Jana S, Dey A, De SK, Chattopadhyay S
Environ Sci Pollut Res Int 2018 Dec;25(36):36462-36473. Epub 2018 Oct 29 doi: 10.1007/s11356-018-3542-5. PMID: 30374712
Cullen CE, Carter GT, Weiss MD, Grant PA, Saperstein DS
Phys Med Rehabil Clin N Am 2012 Feb;23(1):59-65, x. Epub 2011 Dec 14 doi: 10.1016/j.pmr.2011.11.001. PMID: 22239874
Doshi S, McDowell I, Goodfellow J, Stabler S, Boger R, Allen R, Newcombe R, Lewis M, Moat S
Metabolism 2005 Mar;54(3):351-60. doi: 10.1016/j.metabol.2004.09.015. PMID: 15736113
Kalantar-Zadeh K, Ikizler TA, Block G, Avram MM, Kopple JD
Am J Kidney Dis 2003 Nov;42(5):864-81. doi: 10.1016/j.ajkd.2003.07.016. PMID: 14582032

Diagnosis

Kalantar-Zadeh K, Ikizler TA, Block G, Avram MM, Kopple JD
Am J Kidney Dis 2003 Nov;42(5):864-81. doi: 10.1016/j.ajkd.2003.07.016. PMID: 14582032

Therapy

Bae JB, Han JW, Song J, Lee K, Kim TH, Kwak KP, Kim BJ, Kim SG, Kim JL, Moon SW, Park JH, Ryu SH, Youn JC, Lee DY, Lee DW, Lee SB, Lee JJ, Jhoo JH, Kim KW
Clin Nutr 2021 Jul;40(7):4579-4584. Epub 2021 Jun 9 doi: 10.1016/j.clnu.2021.05.034. PMID: 34229262
Jana L, Maity PP, Perveen H, Dash M, Jana S, Dey A, De SK, Chattopadhyay S
Environ Sci Pollut Res Int 2018 Dec;25(36):36462-36473. Epub 2018 Oct 29 doi: 10.1007/s11356-018-3542-5. PMID: 30374712
Cullen CE, Carter GT, Weiss MD, Grant PA, Saperstein DS
Phys Med Rehabil Clin N Am 2012 Feb;23(1):59-65, x. Epub 2011 Dec 14 doi: 10.1016/j.pmr.2011.11.001. PMID: 22239874
Doshi S, McDowell I, Goodfellow J, Stabler S, Boger R, Allen R, Newcombe R, Lewis M, Moat S
Metabolism 2005 Mar;54(3):351-60. doi: 10.1016/j.metabol.2004.09.015. PMID: 15736113
Kalantar-Zadeh K, Ikizler TA, Block G, Avram MM, Kopple JD
Am J Kidney Dis 2003 Nov;42(5):864-81. doi: 10.1016/j.ajkd.2003.07.016. PMID: 14582032

Clinical prediction guides

Cullen CE, Carter GT, Weiss MD, Grant PA, Saperstein DS
Phys Med Rehabil Clin N Am 2012 Feb;23(1):59-65, x. Epub 2011 Dec 14 doi: 10.1016/j.pmr.2011.11.001. PMID: 22239874
Williams KT, Schalinske KL
J Nutr 2007 Feb;137(2):311-4. doi: 10.1093/jn/137.2.311. PMID: 17237303

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