Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F23%3A10451895" target="_blank" >RIV/00216208:11110/23:10451895 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/23:10451895
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=q3lm1W-P-8" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=q3lm1W-P-8</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bph.15991" target="_blank" >10.1111/bph.15991</a>

Result language
angličtina
Original language name
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
Original language description
Cystathionine beta-synthase (CBS)-deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non-responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations of homocysteine, a toxic intermediate of methionine metabolism that is thought to be the major cause of clinical complications including skeletal deformities, connective tissue defects, thromboembolism and cognitive impairment. The current standard of care involves significant dietary interventions that, despite being effective, often adversely affect quality of life of HCU patients, leading to poor adherence to therapy and inadequate biochemical control with clinical complications. In recent years, the unmet need for better therapeutic options has resulted in development of novel enzyme and gene therapies and exploration of pharmacological approaches to rescue CBS folding defects caused by missense pathogenic mutations. Here, we review scientific evidence and current state of affairs in development of recent approaches to treat HCU.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)

Project
<a href="/en/project/NV19-01-00307" target="_blank" >NV19-01-00307: Etiology of severely disturbed sulfur amino acid metabolism: a basis for targeted diagnosis and personalized treatment in the Czech Republic</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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