Homocystinuria

WHAT IS IT?

Homocystinuria is a metabolic disorder. It is characterized by a defeincy of cystathionine synthase, methionine synthase, or decreased affinity of cystathionine synthase for pyridoxal phosphate. 

WHAT CAUSES IT?

 

WHY IS IT CONCERNING MEDICALLY?

 

WHAT IS THE INTIAL PRESENTATION?

Patient Chief Complaints:

 

Detected Medical Problems:

 

WHAT ARE IMPORTANT ELEMENTS OF THE MEDICAL HISTORY?

Risk Factors:

 

Medical History:

 

WHAT ARE IMPORTANT FEATURES OF THE PHYSICAL EXAM?

Vital Signs:

 

Other:

 

CLINICAL WORKUP: SERUM STUDIES

 

CLINICAL WORKUP: IMAGING

 

CLINICAL WORKUP: OTHER

 

HOW DO WE NARROW THE DIFFERENTIAL?

Conditions that present similarly and how to exclude them:

 

WHAT IS OUR THRESHOLD FOR DIAGNOSING THIS CONDITION?

 

PATIENT MANAGMENT: SYMPTOM RELEIF

 

PATIENT MANAGEMENT: DISEASE TREATMENT

 

PATIENT MANAGEMENT: PROPHYLACTIC MEASURES

 

COULD THIS HAVE BEEN PREVENTED?

 

ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

 

Page Updated: 04.22.2017