To send 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 sending content to .
To send 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 sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent 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.
Epileptic seizures can occur in many inborn errors of metabolism (IEMs), usually as part of a larger clinical spectrum. This chapter considers IEMs, most of which are amenable to specific metabolic treatment. Epilepsy is frequent in Glucose transporter type 1 (GLUT-1) deficiency. Hyperinsulinism/hyperammonemia syndrome (HI/HA) is a rare disorder resulting from missense mutations in glutamate dehydrogenase. Non-ketotic hyperglycinemia (NKH) results from mutations in the subunits of the glycine cleavage enzyme that degrades the neurotransmitter glycine. The congenital disorder of glycosylation (CDG) syndrome covers a group of autosomal recessive diseases, resulting from mutations in the enzymes responsible for protein glycosylation. Epileptic patients, when an IEM is suspected, should have a complete clinical examination, EEG, brain magnetic resonance imaging (MRI) with proton magnetic resonance spectroscopy, ophthalmologic examination, and abdominal ultrasonography. Practical efforts should be made to identify the IEM that can benefit from tailored metabolic therapies.
Email your librarian or administrator to recommend adding this to your organisation's collection.