The Building Blocks of Homocystinuria and Homocysteinemia Management

Homocysteine

Hcy Metabolism Cycle

Hyperhomocysteinemia

cblC Disease

Patient Case 1

Patient Case 1 Diagnosis and Treatment

Patient Case 1 Follow-up

Manifestations of CblC Disease

CblC Disease Diagnostic Testing

CblC Disease Brain Imaging Findings

CblC Disease Treatment

CblC Disease Acute Management

Long-Term Follow-Up and Surveillance

Patient Case 2

Patient Case 2 (cont)

Homocystinuria Clinical Features

Patient Case 2 Laboratory Findings

Pyridoxine Responsiveness

Assessing Pyridoxine Responsiveness Pyridoxine Challenge

Patient Case 2 (cont)

Homocystinuria Lab Studies

Free Hcy

Monitoring and Surveillance for CBS

CBS Specific Monitoring

Homocystinuria Diet and Medications

Homocystinuria Outcomes

Homocystinuria Brain Imaging Findings

Special Recommendations

Concluding Remarks

Abbreviations