Abstract
Several genetic abnormalities can produce excessive excretion of urinary homocystine. Cystathion β-synthase deficiency (CBS) is the most common. Others include 5,10-methylene tetrahydrofolate reductase deficiency, defects in cobalamine and folate metabolism, and nutritional deficiencies of vitamin B12 and folate.
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13 Amino Acid Metabolism Disorders
Harding BH, Surtees R (2002) Metabolic and neurodegenerative diseases of childhood. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 501–507.
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(2007). Amino Acid Metabolism Disorders. In: Pediatric Neuropathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-49898-8_13
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DOI: https://doi.org/10.1007/978-4-431-49898-8_13
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