Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?

Sellos-Moura, M.; Glavin, Frank; Lapidus, David; Evans, K.; Palmer, Liisa; Irwin, Debra E.

doi:10.1016/j.ymgme.2020.02.001

Cited by 10 publications

(9 citation statements)

References 18 publications

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“…The auxiliary examination, which included a carotid DSA examination, showed slenderness in the right ICA and occlusion in the C7 segment, as well as occlusion in the left ICA. Blood homocysteine met the diagnostic criteria for severe hyperhomocysteinemia (>100 µmoL/L); this elevation is often caused by hereditary factors ( 4 ). This prompted us to perform gene sequencing, which revealed 2 variants in her CBS gene and 1 variant in the SERPINC1 gene.…”

Section: Discussionmentioning

confidence: 99%

CBS and SERPINC1 mutation-induced ischemic stroke and multisystem diseases in a young woman: a case description and literature analysis

Jiang¹,

Shen²,

Yang³

et al. 2023

Quant Imaging Med Surg

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Section: Discussionmentioning

confidence: 99%

CBS and SERPINC1 mutation-induced ischemic stroke and multisystem diseases in a young woman: a case description and literature analysis

Jiang¹,

Shen²,

Yang³

et al. 2023

Quant Imaging Med Surg

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“…У 1,8% из них оно превышало 30 мкмоль/л (в среднем 75,3±57,2 мкмоль/л). Среди обследованных, у которых определялась или не определялясь умеренная/выраженная гипергомоцистеинемия, частота гомоцистинурии или других нарушений обмена серосодержащих аминокислот существенно не отличалась и составила 3,8% и 4,0%, соответственно (р=0,752) [24]. Концентрация гомоцистеина в плазме может снизиться под влиянием витамина В6 (пиридоксина).…”

Section: клинический разборunclassified

Classic homocystinuria: etiology, natural history and treatment

Moiseev¹,

Chebotareva²,

Bulanov³

et al. 2022

CPT

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Classic homocystinuria is a rare autosomal recessive disorder of methionine metabolism resulting from a deificiency of cystathionine beta-synthase that is involved in transsulfuration of homocysteine. The disorder is caused by mutations of CBS gene. Lack of enzyme is associated with accumulation of homocysteine that induce various toxicities, e.g. endothelial dysfunction and increased risk of thrombosis. Clinical manifestations of classic homocystinuria include ectopia lentis and/or severe myopia, skeletal abnormalities (marfanoid habitus, generalized osteoporosis and bone deformity), mental retardation, seizures, psychiatric and behavioral disorderts, venous and arterial thrombosis. Some patients with milder form of the disease can present only with thromboembolic events in adulthood. Diagnosis of classic homocystinuria should by established by biochemical (elevated plasma homocysteine and methionine and low cistathione) and genetic (homozygous and compound heterozygous mutations of CBS gene) tests. Low methionine diet, vitamin B6, folic acid and betaine anhydrous, a methylating agent, can be used to reduce homocysteine levels, to prevent progression of the homocystinuria and thromboembolic events.

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“…Normal tHcy levels are typically below 15 μM, while tHcy levels above 100 μM are usually suggestive of HCU [ [3] , [4] , [5] , [6] ]. A 2020 study found that tHcy levels above 30 μM may also be indicative of HCU in some patients, especially those with undiagnosed HCU [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data

Jain,

Shah,

Thakker

et al. 2024

Molecular Genetics and Metabolism Reports

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Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?

Cited by 10 publications

References 18 publications

CBS and SERPINC1 mutation-induced ischemic stroke and multisystem diseases in a young woman: a case description and literature analysis

CBS and SERPINC1 mutation-induced ischemic stroke and multisystem diseases in a young woman: a case description and literature analysis

Classic homocystinuria: etiology, natural history and treatment

Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data

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