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What is Homocystinuria (HCU)?

Can Ficicioglu, MD, PhD, Clinical Director of the Metabolic Disease Program at Children's Hospital of Philadelphia, gives an overview of homocystinuria. As Dr. Ficicioglu explains, homocystinuria is a rare congenital metabolic disease characterized by extremely elevated levels of homocysteine and its precursor, methionine. Homocystinuria is caused by an inherited deficiency in the enzyme, cystathionine beta-synthase. When cystathionine beta-synthase is absent, homocysteine builds up in the blood and urine, putting patients at risk of multisystem complications, including acute thromboembolic events, optical damage from lens dislocation, skeletal deficiencies, and neurocognitive impairments. As Dr. Ficicioglu explains, homocystinuria is in the Recommended Uniform Screening Panel (RUSP) in the United States so, often it is detected during newborn screening by measuring homocysteine and methionine levels. However, as Dr. Ficicioglu further notes, some babies do not present with elevated levels of these amino acids during the newborn period. These patients are diagnosed when clinical symptoms arise. Recently, the FDA granted fast track and orphan drug designations to SYNB1353, an investigational treatment for homocystinuria, after positive top-line data from a phase 1 trial.