Special Issue "Newborn Screening for Classical Homocystinuria"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 June 2021) | Viewed by 8976
2. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
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Classical Homocystinuria (HCU) is caused by cystathionine beta‐synthase (CBS) deficiency and biallelic pathogenic variations in CBS gene. The disease has two forms: vitamin B6 –responsive and vitamin B6-nonresponsive. The prevalence of classical HCU appears to vary significantly in different ethnic groups from 1:1,800 to 1:900,000 in Qatar and Japan, respectively. Early diagnosis and treatment clearly result in much better outcomes. In the early 2000s, newborn screening for the disorder was advocated and started in the USA and some other countries. Newborn screening is performed by measuring methionine in dried blood spots. The sensitivity of newborn screening for HCU is poor, failing to catch many patients. For several years, we have known that the vast majority of B6 –responsive cases of HCU are missed because virtually all identified cases are B6-nonresponsive. It has recently emerged that NBS using methionine as a primary marker also misses substantial numbers of patients with B6-nonresponsive HCU, the most severe form of the disease. These B6-nonresponsive patients are presenting with clinical symptoms of HCU in their early teens. Measuring homocysteine, the primary metabolite increased in HCU, would be much more definitive and likely to identify all cases of HCU. It is important to establish clear guidelines about optimal markers for detecting HCU in NBS.
The goal of this Special Issue is to highlight the impact of NBS on HCU. It will focus on: (a) long term outcomes of patients with HCU detected through NBS; (b) the impact of the use of different NBS markers (methionine v. homocysteine) in detecting—or failing to detect—individuals with HCU; (c) impact of pilot programs using homocysteine on detection of B6-responsive cases, a heretofore under-detected and hence under represented group in previous reports; (d) the effects of different screening approaches in different countries. We hope that this Special Issue will encourage experts to share their experience and lead to more effective newborn screening for this rare disorder.
Prof. Dr. Can Ficicioglu
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