CBS AR unreviewed
Homocystinuria (CBS deficiency)
Methionine cycle / transsulfuration
Cystathionine beta-synthase
Enzyme or protein defect
Cystathionine beta-synthase
Accumulates or becomes deficient
Homocysteine, methionine
Key features
Marfanoid habitus, DOWNWARD lens dislocation, thrombosis, intellectual disability, osteoporosis
Management
B6 (pyridoxine) trial, betaine, Met restriction, cysteine supplement
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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