Homocystinuria overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
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Overview
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
Historical Perspective
Classification
Classification
Pathophysiology
Pathophysiology
Causes
Causes
Differentiating Homocystinuria from Other Diseases
Differentiating Homocystinuria from Other Diseases
Epidemiology and Demographics
Epidemiology and Demographics
Risk Factors
Risk Factors
Screening
Screening
Natural History, Complications, and Prognosis
Natural History, Complications, and Prognosis
Diagnosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment
Medical Therapy
Surgery
Prevention
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