Amino Acid Metabolism Disorders


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.


Intellectual Disability Cerebral White Matter Disease Maple Syrup Urine Maple Syrup Urine Disease Excessive Excretion 
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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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