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Hereditary hyperhomocysteinemia

MedGen UID:
749607
•Concept ID:
C2585350
•
Disease or Syndrome
SNOMED CT: Hereditary hyperhomocysteinemia (439006004)

Professional guidelines

PubMed

POSITIVE EFFECT OF BETAINE-ARGININE SUPPLEMENT ON IMPROVED HYPERHOMOCYSTEINEMIA TREATMENT IN MARRIED COUPLES WITH REPRODUCTIVE DISORDERS.
Rossokha Z, Fishchuk L, Sheyko L, Medvedieva N, Gorovenko N
Georgian Med News 2020 Dec;(309):22-28. PMID: 33526724

Recent clinical studies

Etiology

Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review.
Yu Y, Jia C, Shi Q, Zhu Y, Liu Y
Medicine (Baltimore) 2019 Jan;98(2):e13998. doi: 10.1097/MD.0000000000013998. PMID: 30633186Free PMC Article
Hereditary hyperhomocysteinemia associated with nephrotic syndrome complicated by artery thrombosis and chronic thromboembolic pulmonary hypertension: A case report.
Ruggeri P, Lo Bello F, Nucera F, Gaeta M, Monaco F, Caramori G, Girbino G
Monaldi Arch Chest Dis 2017 Dec 19;87(3):880. doi: 10.4081/monaldi.2017.880. PMID: 29424201
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M, Kabil O, Sen S, Banerjee R
J Inorg Biochem 2006 Dec;100(12):1988-95. Epub 2006 Sep 20 doi: 10.1016/j.jinorgbio.2006.08.020. PMID: 17069888
Hereditary thrombophilia in ethnic Omani patients.
Pathare A, Al Kindi S, Al Haddabi H, Dennison D, Bayoumi R, Muralitharan S
Am J Hematol 2006 Feb;81(2):101-6. doi: 10.1002/ajh.20525. PMID: 16432849
Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein.
Banerjee R, Zou CG
Arch Biochem Biophys 2005 Jan 1;433(1):144-56. doi: 10.1016/j.abb.2004.08.037. PMID: 15581573

Diagnosis

Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review.
Yu Y, Jia C, Shi Q, Zhu Y, Liu Y
Medicine (Baltimore) 2019 Jan;98(2):e13998. doi: 10.1097/MD.0000000000013998. PMID: 30633186Free PMC Article
Hereditary hyperhomocysteinemia associated with nephrotic syndrome complicated by artery thrombosis and chronic thromboembolic pulmonary hypertension: A case report.
Ruggeri P, Lo Bello F, Nucera F, Gaeta M, Monaco F, Caramori G, Girbino G
Monaldi Arch Chest Dis 2017 Dec 19;87(3):880. doi: 10.4081/monaldi.2017.880. PMID: 29424201
Menorrhagia and adenomyosis in a patient with hyperhomocysteinemia, recurrent pelvic vein thromboses and extensive uterine collateral circulation treatment by supracervical hysterectomy.
Nawroth F, Schmidt T, Foth D, Landwehr P, Römer T
Eur J Obstet Gynecol Reprod Biol 2001 Oct;98(2):240-3. doi: 10.1016/s0301-2115(01)00310-4. PMID: 11574139

Therapy

POSITIVE EFFECT OF BETAINE-ARGININE SUPPLEMENT ON IMPROVED HYPERHOMOCYSTEINEMIA TREATMENT IN MARRIED COUPLES WITH REPRODUCTIVE DISORDERS.
Rossokha Z, Fishchuk L, Sheyko L, Medvedieva N, Gorovenko N
Georgian Med News 2020 Dec;(309):22-28. PMID: 33526724

Clinical prediction guides

Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase.
Evande R, Blom H, Boers GH, Banerjee R
Biochemistry 2002 Oct 1;41(39):11832-7. doi: 10.1021/bi026248d. PMID: 12269827

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