Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Homocystinuria
Introduction
Synonyms and keywords: CBS deficiency; cystathionine beta-synthase deficiency
Overview
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Homocystinuria from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Historical Perspective
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Historical Perspective
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Classification
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Classification
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Pathophysiology
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Pathophysiology
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Causes
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Causes
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Differentiating Homocystinuria from other Diseases
Overview
Homocysteinuria must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and osteomalacia.
Differential Diagnosis
- Homocysteinuria must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and osteomalacia.
|
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Epidemiology and Demographics
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Epidemiology and Demographics
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Risk Factors
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Risk Factors
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Screening
Please help WikiDoc by adding content here. It’s easy! Click here to learn about editing.
Overview
Screening
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Natural History, Complications and Prognosis
Overview
Natural History, Complications and Prognosis
The life expectancy of patients with homocystinuria is reduced only if untreated. It is known that before the age of 30, almost one fourth of patients die as a result of thrombotic complications (e.g. heart attack).
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Diagnosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]