Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on <i>CBS</i> that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disease. The administration of pyrid...

Full description

Bibliographic Details
Main Authors: Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Children
Subjects:
expanded newborn screening
homocysteine
hypermethioninemia
pyridoxine
diet
betaine
Online Access:https://www.mdpi.com/2227-9067/10/2/396

Internet

https://www.mdpi.com/2227-9067/10/2/396

Similar Items