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

• Main Authors: Egidio Candela (Author), Michele Zagariello (Author), Valeria Di Natale (Author), Rita Ortolano (Author), Francesca Righetti (Author), Valentina Assirelli (Author), Giacomo Biasucci (Author), Alessandra Cassio (Author), Andrea Pession (Author), Federico Baronio (Author)
• Format: Book
• Published: MDPI AG, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...