Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Existing Reviews

Please note, new claims can take a short while to show up.

No claims yet.

Annotation Summary

Term Occurence Count Dictionary
phenylketonuria 1 endocrinologydiseases
vitamin B12 deficiency 3 endocrinologydiseases
cystinuria 12 endocrinologydiseases
folate deficiency 2 endocrinologydiseases
homocystinuria 12 endocrinologydiseases
hyperhomocysteinemia 7 endocrinologydiseases
osteoporosis 11 endocrinologydiseases

There are not enough annotations found in this document to create the proximity graph.

Review

Having read the paper, please pick a pair of statements from the paper to indicate that a drug and disease are related.

Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
cystinuria 2130 serious.IntroductionCystathionine beta-synthase (CBS) deficiency is a rare inherited disorder, also known as classical homo cystinuria (OMIM 236200). Homocysteine (Hcy) is a non-structural amino acid (AA) that is formed in the catabolic
cystinuria 8733 responsiveness).Guideline developmentThe guideline was written as part of the European network and registry for homo cystinuria s and methylation defects (E-HOD). A Guideline Development Group (GDG) was convened, including paediatricians,
cystinuria 17135 in the differential diagnosis, even if the patient shows no other clinical features of classical homo cystinuria (Cruysberg et al [35]).DiagnosisBiochemical diagnosis (statement #4: grade of recommendation C)Plasma
cystinuria 39348 diagnosed by NBS or because of a family history, patients will present with one of the complications of homo cystinuria . Children are often diagnosed following dislocation of the optic lens, by which time they may have some
cystinuria 43980 this age may also lead to lens subluxation and possibly psychiatric issues.Pyridoxine-responsive homo cystinuria Assessment of pyridoxine-responsiveness (statement #16: grade of recommendation C-D)To assess pyridoxine
cystinuria 46774 sensitive screening strategies may detect more patients with the pyridoxine-responsive form of homo cystinuria than reported previously (Huemer and Kozich, unpublished). To avoid delaying effective treatment, we
cystinuria 73612 under 5 years and probably affects under 2 % of adults ([107]). Lenticular subluxation due to homo cystinuria should be suspected in these patients if there is no evidence of axial myopia on fundoscopy and corneal
cystinuria 78516 myocardial infarction only 4 % (Mudd et al [113]).It has been suggested that the risk of thrombosis in homo cystinuria depends largely on whether patients also have the factor V Leiden mutation (Mandel et al [99]) but this
cystinuria 88861 immobilisation. Intractable vomiting may necessitate intravenous fluids.None of the treatments for homo cystinuria need to be stopped during intercurrent illnesses. Some increase in Hcy during illness is to be expected
cystinuria 91546 preventing thrombosis are recommended for travel.There are no publications concerning travel and homo cystinuria . Guidelines for patients who have had a venous thromboembolism are the same as for patients with thrombophilia—i.e.
cystinuria 95107 Cochrane databases using the terms “quality of life” combined with “CBS deficiency” or “homo cystinuria ” identified no publication addressing this. There are also very few publications concerning employment
cystinuria 97106 [6]).Research is needed to identify which strategies are most effective in improving QoL for patients with homo cystinuria .ConclusionsThese guidelines are based on the best data currently available concerning the diagnosis,
folate deficiency 27097 deficiency.Nutritional causes of hyperhomocysteinemia are common, notably vitamin B12 deficiency and, less often, folate deficiency . These should be excluded by measuring serum vitamin B12 and/or transcobalamin II, plasma or urine methylmalonic
folate deficiency 50655 enhancing the remethylation pathway but may have side effects (Wang et al [157]). Though it is clear that folate deficiency must be avoided, there is little evidence concerning the optimal dose of folate supplementation. In
homocystinuria 2126 serious.IntroductionCystathionine beta-synthase (CBS) deficiency is a rare inherited disorder, also known as classical homocystinuria (OMIM 236200). Homocysteine (Hcy) is a non-structural amino acid (AA) that is formed in the catabolic
homocystinuria 8729 responsiveness).Guideline developmentThe guideline was written as part of the European network and registry for homocystinuria s and methylation defects (E-HOD). A Guideline Development Group (GDG) was convened, including paediatricians,
homocystinuria 17131 considered in the differential diagnosis, even if the patient shows no other clinical features of classical homocystinuria (Cruysberg et al [35]).DiagnosisBiochemical diagnosis (statement #4: grade of recommendation C)Plasma
homocystinuria 39344 diagnosed by NBS or because of a family history, patients will present with one of the complications of homocystinuria . Children are often diagnosed following dislocation of the optic lens, by which time they may have some
homocystinuria 43976 at this age may also lead to lens subluxation and possibly psychiatric issues.Pyridoxine-responsive homocystinuria Assessment of pyridoxine-responsiveness (statement #16: grade of recommendation C-D)To assess pyridoxine
homocystinuria 46770 that sensitive screening strategies may detect more patients with the pyridoxine-responsive form of homocystinuria than reported previously (Huemer and Kozich, unpublished). To avoid delaying effective treatment, we
homocystinuria 73608 children under 5 years and probably affects under 2 % of adults ([107]). Lenticular subluxation due to homocystinuria should be suspected in these patients if there is no evidence of axial myopia on fundoscopy and corneal
homocystinuria 78512 myocardial infarction only 4 % (Mudd et al [113]).It has been suggested that the risk of thrombosis in homocystinuria depends largely on whether patients also have the factor V Leiden mutation (Mandel et al [99]) but this
homocystinuria 88857 immobilisation. Intractable vomiting may necessitate intravenous fluids.None of the treatments for homocystinuria need to be stopped during intercurrent illnesses. Some increase in Hcy during illness is to be expected
homocystinuria 91542 for preventing thrombosis are recommended for travel.There are no publications concerning travel and homocystinuria . Guidelines for patients who have had a venous thromboembolism are the same as for patients with thrombophilia—i.e.
homocystinuria 95103 and Cochrane databases using the terms “quality of life” combined with “CBS deficiency” or “ homocystinuria ” identified no publication addressing this. There are also very few publications concerning employment
homocystinuria 97102 [6]).Research is needed to identify which strategies are most effective in improving QoL for patients with homocystinuria .ConclusionsThese guidelines are based on the best data currently available concerning the diagnosis,
hyperhomocysteinemia 2769 ‘marfanoid’ habitus, learning difficulties and a predisposition to thromboembolism. Other causes of hyperhomocysteinemia include inborn errors of Hcy remethylation, vitamin deficiencies (especially B12), renal insufficiency
hyperhomocysteinemia 26490 cystathionine and/or elevated plasma or urinary methylmalonic acid concentrations suggest causes of hyperhomocysteinemia other than CBS deficiency.Increased plasma tHcy concentrations are not specific for CBS deficiency as
hyperhomocysteinemia 26874 Confirmation of CBS deficiency (as specified below) should be accompanied by excluding other causes of hyperhomocysteinemia ; the balance of these two approaches depends on the degree of clinical suspicion of CBS deficiency.Nutritional
hyperhomocysteinemia 27016 two approaches depends on the degree of clinical suspicion of CBS deficiency.Nutritional causes of hyperhomocysteinemia are common, notably vitamin B12 deficiency and, less often, folate deficiency. These should be excluded
hyperhomocysteinemia 27577 for the common c.677C > T variant in the MTHFR gene. Renal failure is another frequent cause of hyperhomocysteinemia and should be excluded by measuring the serum creatinine concentration. The patient’s history is also
hyperhomocysteinemia 27760 concentration. The patient’s history is also important as it may reveal other diseases associated with hyperhomocysteinemia or the administration of drugs such as nitrous oxide, methotrexate and other folate antagonists (Rasmussen
hyperhomocysteinemia 34524 screening for CBS deficiency can be performed by detecting elevated Met, Met-to-phenylalanine ratio and/or hyperhomocysteinemia in DBS although tHcy has only exceptionally been used as a primary marker. Sensitivity of Met as a primary
osteoporosis 2646 others are asymptomatic into adulthood. The main clinical features are dislocation of the optic lenses, osteoporosis and a ‘marfanoid’ habitus, learning difficulties and a predisposition to thromboembolism. Other
osteoporosis 12134 lentis and/or severe myopiaSkeleton: excessive height and length of the limbs (‘marfanoid’ habitus), osteoporosis and bone deformities, such as pectus excavatum or carinatum, genu valgum and scoliosisCentral nervous
osteoporosis 14309 tend to have excessive height and limb length (dolichostenomelia and arachnodactyly) and are prone to osteoporosis , at least after childhood. Various bone deformities and abnormal X-ray findings may also be present
osteoporosis 38752 detected by NBS. These studies found that good compliance with dietary treatment prevented ectopia lentis, osteoporosis and thromboembolic events (Wilcken and Turner [161]; Wilcken and Wilcken [162]; Yap and Naughten [168];
osteoporosis 74450 C-D)Skeletal complications in CBS deficiency are common and include long bone overgrowth and premature osteoporosis . The true frequency is unknown. Early diagnosis and lifelong treatment with good biochemical control
osteoporosis 75917 Boers et al [16], [17]; Mudd et al [113]) but CBS deficiency can be distinguished by the presence of osteoporosis (Carson [29]).Osteoporosis, especially of the spine, is the most consistent skeletal abnormality. In
osteoporosis 76120 abnormality. In the largest review, 70 % of untreated pyridoxine-unresponsive patients developed spinal osteoporosis by 16 years of age (Mudd et al [113]). This may, however, be an overestimate as osteoporosis was not
osteoporosis 76214 spinal osteoporosis by 16 years of age (Mudd et al [113]). This may, however, be an overestimate as osteoporosis was not defined according to current criteria (ISCD, 2013, http://www.iscd.org/official-positions/2013-iscd-official-positions-pediatric).
osteoporosis 76373 (ISCD, 2013, http://www.iscd.org/official-positions/2013-iscd-official-positions-pediatric). Spinal osteoporosis also occurs in many pyridoxine responsive cases, usually at a later age (Mudd et al [113]). Early diagnosis
osteoporosis 76537 usually at a later age (Mudd et al [113]). Early diagnosis and effective treatment reduce the risk of osteoporosis (Yap and Naughten [168]; Lim and Lee [90]).Osteoporosis may lead to vertebral collapse (Schimke et al
osteoporosis 76747 et al [140]; Brenton [21]) and scoliosis, though the latter has also been reported in the absence of osteoporosis . DEXA scanning should routinely be performed every 3-5 years from adolescence unless there is a clinical
phenylketonuria 52299 protein, with supplements of a Met-free L-AA mixture. The approach is analogous to the management of phenylketonuria (PKU) for which there is a greater body of published evidence.There are very few reported complications
vitamin B12 deficiency 27057 clinical suspicion of CBS deficiency.Nutritional causes of hyperhomocysteinemia are common, notably vitamin B12 deficiency and, less often, folate deficiency. These should be excluded by measuring serum vitamin B12 and/or transcobalamin
vitamin B12 deficiency 27294 II, plasma or urine methylmalonic acid and serum folates (Refsum et al [129], [130]). Patients with vitamin B12 deficiency can have tHcy up to 450 μmol/L (Stabler [152]). Folate deficiency is particularly likely to cause
vitamin B12 deficiency 91273 anaesthesia. Nitrous oxide should be avoided in patients with CBS deficiency and, particularly, if there is vitamin B12 deficiency , when it can cause subacute combined degeneration of the cord.Precautions for travel (statement #39:

You must be authorized to submit a review.