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Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
T. Majtan, V. Kožich, WD. Kruger
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, přehledy, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01 CA245871
NCI NIH HHS - United States
P30 CA006927
NCI NIH HHS - United States
NLK
Free Medical Journals
od 1968 do Před 1 rokem
Europe PubMed Central
od 1968 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2002-01-01 do Před 1 rokem
Wiley Free Content
od 1997 do Před 1 rokem
PubMed
36417581
DOI
10.1111/bph.15991
Knihovny.cz E-zdroje
- MeSH
- cystathionin-beta-synthasa genetika metabolismus MeSH
- homocystinurie * farmakoterapie genetika metabolismus MeSH
- kvalita života MeSH
- lidé MeSH
- missense mutace MeSH
- tromboembolie * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
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.
Citace poskytuje Crossref.org
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- $a 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.
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