Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to abnormalities in the skeletal, cardiovascular, ophth...

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Bibliographic Details
Main Authors: Alexander Asamoah, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, Harvey Levy
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Neonatal Screening
Subjects:
homocystinuria
HCU
newborn screening
homocysteine
CBS gene
next generation sequencing
Online Access:https://www.mdpi.com/2409-515X/7/3/48

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https://www.mdpi.com/2409-515X/7/3/48

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