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Cystathionine Beta-synthase Deficiency
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Summary
Cystathionine Beta-synthase Deficiency
is a
Genetic Disorder
characterized by the
Accumulation of homocysteine
due to
Impaired conversion to cystathionine
, leading to homocystinuria and associated complications like
Cardiovascular Disease
,
Skeletal Abnormalities
, and
Developmental Delays
.
Early Diagnosis
and
Treatment with vitamin B6
, betaine, or
Dietary Management
can mitigate symptoms and improve quality of life.
Concepts
Homocystinuria
Hyperhomocysteinemia
Cardiovascular Disease
Skeletal Abnormalities
Developmental Delays
Vitamin B6 Therapy
Betaine Supplementation
Genetic Mutation
Metabolic Disorder
Dietary Management
Relevant Degrees
Pathology of the Digestive System 86%
Medicaments According to Origin 14%
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