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Amino Acid Metabolism Disorders

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.

Keywords

Intellectual Disability Cerebral White Matter Disease Maple Syrup Urine Maple Syrup Urine Disease Excessive Excretion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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13 Amino Acid Metabolism Disorders

  1. 1.
    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.Google Scholar

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© Springer 2007

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