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Homocystinuria
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Cystathionine β-synthase deficiency
            • Hyperhomocysteinemia
          • Definitions

            • Group of disorders that have inborn errors in methionine metabolism and excessive homocysteine in body fluids

          IMAGING

          • Radiographic Findings

            DIFFERENTIAL DIAGNOSIS

              PATHOLOGY

              • General Features

                • Microscopic Features

                  CLINICAL ISSUES

                  • Demographics

                    • Natural History & Prognosis

                      • Treatment

                        Selected References

                        1. Melenovská P et al: Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. J Inherit Metab Dis. 38(2):287-94, 2015
                        2. Lim JS et al: Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporos Int. 24(9):2535-8, 2013
                        3. Skovby F et al: A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab. 99(1):1-3, 2010
                        4. Weisfeld-Adams JD et al: Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab. 99(2):116-123, 2010
                        5. Froese DS et al: Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Mol Genet Metab. 98(4):338-43, 2009
                        6. Righetti M: Protective effect of vitamin B therapy on bone and cardiovascular disease. Recent Pat Cardiovasc Drug Discov. 4(1):37-44, 2009
                        7. Cattaneo M: Hyperhomocysteinemia and venous thromboembolism. Semin Thromb Hemost. 32(7):716-23, 2006
                        8. Herrmann M et al: Homocysteine--a newly recognised risk factor for osteoporosis. Clin Chem Lab Med. 43(10):1111-7, 2005
                        9. McCully KS: Hyperhomocysteinemia and arteriosclerosis: historical perspectives. Clin Chem Lab Med. 43(10):980-6, 2005
                        10. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4387-90, 2002
                        Related Anatomy
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                        Related Differential Diagnoses
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                        References
                        Tables

                        Tables

                        KEY FACTS

                        • Terminology

                          • Imaging

                            • Top Differential Diagnoses

                              • Clinical Issues

                                TERMINOLOGY

                                • Synonyms

                                  • Cystathionine β-synthase deficiency
                                  • Hyperhomocysteinemia
                                • Definitions

                                  • Group of disorders that have inborn errors in methionine metabolism and excessive homocysteine in body fluids

                                IMAGING

                                • Radiographic Findings

                                  DIFFERENTIAL DIAGNOSIS

                                    PATHOLOGY

                                    • General Features

                                      • Microscopic Features

                                        CLINICAL ISSUES

                                        • Demographics

                                          • Natural History & Prognosis

                                            • Treatment

                                              Selected References

                                              1. Melenovská P et al: Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. J Inherit Metab Dis. 38(2):287-94, 2015
                                              2. Lim JS et al: Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporos Int. 24(9):2535-8, 2013
                                              3. Skovby F et al: A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab. 99(1):1-3, 2010
                                              4. Weisfeld-Adams JD et al: Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab. 99(2):116-123, 2010
                                              5. Froese DS et al: Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Mol Genet Metab. 98(4):338-43, 2009
                                              6. Righetti M: Protective effect of vitamin B therapy on bone and cardiovascular disease. Recent Pat Cardiovasc Drug Discov. 4(1):37-44, 2009
                                              7. Cattaneo M: Hyperhomocysteinemia and venous thromboembolism. Semin Thromb Hemost. 32(7):716-23, 2006
                                              8. Herrmann M et al: Homocysteine--a newly recognised risk factor for osteoporosis. Clin Chem Lab Med. 43(10):1111-7, 2005
                                              9. McCully KS: Hyperhomocysteinemia and arteriosclerosis: historical perspectives. Clin Chem Lab Med. 43(10):980-6, 2005
                                              10. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4387-90, 2002