To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Phenylketonuria (PKU) is one of the commonest inborn errors of metabolism. The principle of treatment for PKU is the provision of a diet sufficiently low in phenylalanine so that plasma levels fall within a range that permits normal brain growth and development. Classical galactosaemia, the major disorder of galactose metabolism, was first described in detail by Mason and Turner in 1935. Lactose restriction in classical galactosaemia prevents cataracts, liver failure and death. The amino acid homocysteine is formed during metabolic conversion of essential sulphur-containing amino acid methionine to non-essential amino acid cysteine. The most common clinical features of untreated classical homocystinuria include myopia due to lens dislocation, osteoporosis, skeletal deformities, marfanoid appearance, learning difficulties, psychiatric disturbances and vascular complications. Homocystinuria caused by defects of folate and cobalamin metabolism is treated with a combination of folic acid and vitamin B12.
Email your librarian or administrator to recommend adding this to your organisation's collection.