Homocystinuria: Cystathionine β-Synthase (CBS) Deficiency

Homocystinuria due to ystathionine β-Synthase (CBS) deficiency is an autosomal recessive condition with high clinical variability. It can manifest with intellectual disability, a variety of psychiatric and behavioral disorders, skeletal and ocular abnormalities, vaso-occlusive disease, and other less common physical anomalies.

📺 Subscribe To My Channel and Get More Great Quizzes and Tutorials
@med4vl

#FOAMped #MedEd #pediatrics

Disclaimer: All the information provided by Medical Education for Visual Learners and associated videos are strictly for informational purposes only. It is not intended as a substitute for medical advice from your health care provider or physician. It should not be used to overrule the advice of a qualified healthcare provider, nor to provide advice for emergency medical treatment. If you think that you or someone that you know may be suffering from a medical condition, then please consult your physician or seek immediate medical attention.

• #people_blogs
• #homocystinuria
• #cystathionine
• #synthase
• #cbs
• #deficiency
• #usmle
• #synthase