Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. (Q37547501)

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26 March 2020

review article

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title

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency (English)

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Andrew A M Morris

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Journal of Inherited Metabolic Disease

26 March 2020

published in

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Creative Commons Attribution 4.0 International

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Safety of pyridoxine--a review of human and animal studies

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Hyperhomocysteinemia--a risk factor for abruptio placentae

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

The ocular histopathology of homocystinuria. A light and electron microscopic study

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Vascular disease and homocysteine metabolism.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Platelets in homocystinuria

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Pulmonary embolism in a homocystinuric patient during treatment with dipyridamole and acetylsalicylic acid

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

The Manchester regional screening programme: a 10-year exercise in patient and family care

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocystinuria and oral contraceptives

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

A forgotten lethal psychosis: a case report

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

White matter changes in an untreated, newly diagnosed case of classical homocystinuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Anaesthetic management of a young patient with homocystinuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Coronary artery dissection in adult-onset homocystinuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Quality of life in rare genetic conditions: a systematic review of the literature.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Predicting health-related quality of life of parents of children with inherited metabolic diseases.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Protein and amino acid requirements in human nutrition.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Recurrent dystonia in homocystinuria: a metabolic pathogenesis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Social outcome in treated individuals with inherited metabolic disorders: UK study.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Blood spot homocysteine: a feasibility and stability study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Two siblings with homocystinuria presenting with dystonia and parkinsonism.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Atypical BECTS and homocystinuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Isolated thrombosis due to the cystathionine β‐synthase mutation c.833T>C (I278T)

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Dicarboxylic amino acids and glycine-betaine regulate chaperone-mediated protein-disaggregation under stress.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Measurement of total homocysteine in plasma and blood spots using liquid chromatography-tandem mass spectrometry: comparison with the plasma Abbott IMx method.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocysteine and cysteine - albumin binding in homocystinuria: assessment of cysteine status and implications for glutathione synthesis?

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Hematologic manifestations of inborn errors of metabolism

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Chemical chaperones regulate molecular chaperones in vitro and in cells under combined salt and heat stresses

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Maternal pyridoxine non-responsive homocystinuria: the role of dietary treatment and anticoagulation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Prevalence of congenital homocystinuria in Denmark.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Fatal haemorrhagic infarct in an infant with homocystinuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Anesthetic implications of the child with homocystinuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Case report of homocystinuria: clinical, electroencephalographic, and magnetic resonance imaging findings.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

[Prevention of venous thromboembolism--in whom, when and how?]

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203861

Parkinsonian manifestations in a patient with homocystinuria.

1 September 2018

1 reference

12 December 2020

Postoperative dystonia in a female patient with homocystinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

[Homocysteine and cardiovascular risk]

1 reference

12 December 2020

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

1 reference

12 December 2020

Vision, visual acuity, and ocular refraction of young men: findings in a sample of 1,033 subjects

1 reference

12 December 2020

Pregnancy and homocystinuria.

1 reference

12 December 2020

American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism

1 reference

12 December 2020

Aspects of treatment of homocystinuria: an illustrative case report

1 reference

12 December 2020

Glycine betaine-assisted protein folding in a lysA mutant of Escherichia coli

1 reference

12 December 2020

Betaine in the treatment of homocystinuria

1 reference

12 December 2020

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts

1 reference

12 December 2020

Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis

1 reference

12 December 2020

Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor

1 reference

12 December 2020

Breast feeding in IMD

1 reference

12 December 2020

1 reference

12 December 2020

Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings

1 reference

12 December 2020

Cystathionine beta-synthase (human)

1 reference

12 December 2020

Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency

1 reference

12 December 2020

Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria

1 reference

12 December 2020

A successful pregnancy in a patient with homocystinuria and a previous near-fatal postpartum cavernous sinus thrombosis

1 reference

12 December 2020

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

1 reference

12 December 2020

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

1 reference

12 December 2020

Molecular neonatal screening for homocystinuria in the Qatari population

1 reference

12 December 2020

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria

1 reference

12 December 2020

Vitamin B12 Deficiency

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12 December 2020

Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients

1 reference

12 December 2020

Combined vitamin responsiveness in homocystinuria

1 reference

12 December 2020

Early diagnosis and treatment of homocystinuria

1 reference

12 December 2020

Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis

1 reference

12 December 2020

The use of betaine for the treatment of homocystinuria

1 reference

12 December 2020

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy

1 reference

12 December 2020

Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency

1 reference

12 December 2020

Roentgen findings in homocystinuria

1 reference

12 December 2020

Homocystinemia. Vascular injury and arterial thrombosis

1 reference

12 December 2020

Sensory neuropathy and vitamin B6 treatment in homocystinuria

1 reference

12 December 2020

Pyridoxine-responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boy

1 reference

12 December 2020

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report

1 reference

12 December 2020

10.1007/S10545-016-9979-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27778219%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27778219%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference