Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings

Hw, Schienle; Seitz, Rainer; Rohner, Iris; Lerch, L; Krumpholz, Barbara; G, Krauss; Fowler, Brian; Baumgartner, R.; Willenbockel, U.; Egbring, R

doi:10.1097/00001721-199412000-00002

Cited by 14 publications

(10 citation statements)

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“…The association of homocystinuria and antithrombin deficiency has been described although the mechanism is unclear. 1,2 In this case, as in previously reported cases, antithrombin deficiency was corrected by treatment of the homocystinuria.…”

supporting

confidence: 76%

‘Maternal antecedents to cerebral palsy in preterm infants’

Walstab

Bell

Reddihough

et al. 2002

Develop Med Child Neuro

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supporting

confidence: 76%

‘Maternal antecedents to cerebral palsy in preterm infants’

Walstab

Bell

Reddihough

et al. 2002

Develop Med Child Neuro

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“…Raised Hcy concentrations modify sulfhydryl groups on proteins and interfere with the cross-linking of sulfhydryl groups in proteins such as elastin; this is thought to cause the lens dislocation and skeletal abnormalities. Raised Hcy concentrations also alter intracellular signaling and cause endoplasmic reticulum stress with endothelial dysfunction (Schienle et al 1995; Lai and Kan 2015); these mechanisms together with impaired thrombolysis may be responsible for thromboembolism and vascular disease (Schienle et al 1994). Increased SAH impairs methylation reactions and decreased cystathionine and cysteine are associated with apoptosis, oxidative stress and alterations of structural proteins such as fibrillin, which may contribute to connective tissue abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency

Morris

Kožich

Santra

et al. 2016

J of Inher Metab Disea

270

360

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Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.

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“…Markers of activation of coagulation, such as Fl + 2, are elevated and are correctable with treatment. 69 Studies on human umbilical vein endothelial cells demonstrate that H(e) increases tissue factor activity in a dose-dependent fashion, by increasing the rate of synthesis of tissue factor RNA. 70 …”

Section: Coagulation Abnormalitiesmentioning

confidence: 99%

Hyperhomocysteinemia:An Emerging and Important Risk Factor for Thromboembolic and Cardiovascular Disease

1996

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Homocysteine is an important contributing factor to thrombosis, vascular injury, and vascular disease. Mechanisms for homocysteine-induced vascular disease include alterations in coagulation as well as endothelial cell and vessel wall injury. Hyperhomocysteinemia (HH|e|) can occur when homocysteine metabolism is altered by mutations in enzymes responsible for homocysteine metabolism. CharacterizationHomocysteine is a thiol-containing amino acid metabolized by remethylation to methionine or by transsulfuration to cysteine. Elevated homocysteine levels may occur as a result of inherited disorders that alter enzyme activity in the transsulfuration and remethylation pathways. Alternatively, nutritional deficiencies of cobalamin (vitamin B 12 ), folate, or pyridoxine (vitamin B 6 ), can result in blockade of homocysteine metabolic pathways, because activity of these enzymes depends on these vitamins as cofactors. Clinically, elevated homocysteine levels are significant because they may indicate cobalamin, pyridoxine, or folate deficiency. More importantly, elevated homocysteine levels are an independent risk factor for thrombosis and vascular disease.1 "".Homocysteine is the reduced (sulfhydryl) form and homocystine the oxidized (disulfide) form of the homologues cysteine and cystine. 312 For the purpose of this review, both forms of "homocysteine" will be referred to as H(e) and hyperhomocyst(e)inemia as HH(e). In patients in whom H(e) levels are normal, only about 2% of the total concentration occurs as the sulfhydryl form. With elevated H(e) levels, the percentage of homocysteine in the sulfhydryl form represents an increasing per-

show abstract

Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings

Cited by 14 publications

References 0 publications

‘Maternal antecedents to cerebral palsy in preterm infants’

‘Maternal antecedents to cerebral palsy in preterm infants’

Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency

Hyperhomocysteinemia:An Emerging and Important Risk Factor for Thromboembolic and Cardiovascular Disease

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