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Homocystinuria
Alternate Names : Cystathionine Beta Synthase Deficiency
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Homocystinuria Prognosis (Expectations)
Although no specific cure exists for homocystinuria, approximately half of the affected people can be helped by vitamin B6 therapy.
If the diagnosis is made while a patient is young, a low methionine diet started promptly and strictly adhered to can spare some mental retardation and other complications of the disease. For this reason, some states screen for homocystinuria in all newborns.
Unfortunately, patients with persistent increases in blood homocysteine levels are at increased risk for blood clots, which can cause significant medical problems and shorten life span.
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• Definition
• Homocystinuria Overview, Causes, & Risk Factors
• Homocystinuria Symptoms & Signs
• Homocystinuria Prevention
• Homocystinuria Diagnosis & Tests
• Homocystinuria Treatment
• Homocystinuria Prognosis
• Homocystinuria Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Blood Clots
• Cataract
• Failure to Thrive
• Glaucoma
• High Arch
• Knock Knees
• Marfan Syndrome
• Mental Retardation
• Nearsightedness
• Retinal Detachment
• Scoliosis
Tests & Exams
• ELISA
• Liver Biopsy
• Skin Lesion Biopsy
• Standard Ophthalmic Exam
• X-Ray
Other Topics
• Arachnodactyly
• Autosomal Recessive
• Dislocation
• Enzyme
• Genetic Counseling and Prenatal Diagnosis
• Intrauterine
• Metabolism
• Pectus Carinatum
• Pectus Excavatum
• Vision Problems
• Vitamin B6
Review Date : 11/8/2002
Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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