Inborn Errors of Metabolism:

1.  When in doubt or if you need more information, please look at this web site:
http://oxmedinfo.jr2.ox.ac.uk/Pathway/Miscell/MENU.HTM

2.  Go to diseases by group, and you can select specific diseases from here.
Also, you can go to the Karolinska Institute Alphabetical List of Specific Diseases/Disorders
http://www.mic.ki.se/Diseases/alphalist.html

3.  The Pediatric Database of 550 diseases
        http://www.icondata.com/health/pedbase/pedlynx.htm

4.  If you have access to the text, Clinical Nutrition and Dietetics, 2nd edition, by Frances Zeman, then review chapter 17.

Please review and take notes at the following web pages concerning the following diseases--
We will discuss these in class:
 

Metabolic Diseases Basics  http://home.worldonline.nl/~vks/metabolic.html

Alcaptonia
    http://www.specialtylabs.com/testguid/testfils/BK8.HTM
    http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/6158.htm

Citrullinaemia
    http://biomac26.jr2.ox.ac.uk/pathway/Disease/4565.htm
    http://laran.waisman.wisc.edu/fv/www/lib_urea.htm

PKU (phenylketouria)
    http://www.noah.cuny.edu/pregnancy/march_of_dimes/birth_defects/pkuinfo.html
    http://www.wolfe.net/~kronmal/

Galactosemia
    http://sadieo.ucsf.edu/alf/alffinal/infogalactosemia.html
    http://www.kcc.com.msu.edu/CAI/Pathology/Toxic_F/Toxic_3b3.html

Sucrose-isomaltase malabsorption

hyperlipoproteinemia
    Office of rare diseases - http://rarediseases.info.nih.gov/ord/index_1page44.html

Chediak-Higashi syndrome
    http://www.cbc.umn.edu/tad/chsmut.html
    http://cancernet.nci.nih.gov/ord/wwwprot/menu/dx05836.html
    http://www.icondata.com/health/pedbase/files/CHEDIAK-.HTM

Ehlers-Danlos Syndrome
    http://weber.u.washington.edu/~dboone/key/subjects/arthritis/ezzzzzzz1_1.html

Hartnup disease

Homocystinuria

Cystic Fibrosis

Refsum's disease
http://www.pacifier.com/~mstephe/