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Media type:
E-Article
Title:
Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria
Contributor:
Majtan, Tomas;
Kožich, Viktor;
Kruger, Warren D.
Published:
Wiley, 2023
Published in:
British Journal of Pharmacology, 180 (2023) 3, Seite 264-278
Language:
English
DOI:
10.1111/bph.15991
ISSN:
0007-1188;
1476-5381
Origination:
Footnote:
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.