Disorders of amino acid metabolism - cuni.cz

100 Pages·2009·4.34 MB·English

Disorders of amino acid metabolism
http://plantandsoil.unl.edu/croptechnology2005/UserFiles/Image/siteImages/AminoAcidLG.gif
General comments on AA metabolis
Disorders of aromatic AA metabolism
Disorders of aromatic AA metabolism
Disorders of branched chain AA metabolism
Disorders of sulfur metabolism
Disorders of propionate, B12 and biotin
metabolism
Urea cycle disorders
Other disorders of AA metabolism
http://www.natuurlijkerwijs.com/english/b5e55bf0.gif
Energy stores
amount energy
Energy store tissue (g) (kj) (kcal)
Glycogen liver 70 1176 280
Glycogen muscle 120 2016 480
Glucose blood 20 336 80
Triacylglycerols fat 15 000 567 000 135 000
Proteins muscle 6000 100 800 24 000
http://www.studentconsult.com/content/default.cfm?ISBN=9780323053716
~ 400 g
http://uk.geocities.com/[email protected]/images/proteinoverview.png
Protein requirements
Protein intake
How To Achieve A Positive Nitrogen Balance And Why You Care
By Fitness Atlantic Writer: Mike Westerdal
http://www.fitnessatlantic.com/how_achieve_nitrogen_balance.htm
http://www.mmi.mcgill.ca/mmimediasampler2002/images/Cianflone-60no5.gif
Patients with disorders of AA metabolism
sacharidy
beta-oxidace a
12%
OAU
puriny/pyrimidiny
14%
3%
mitochondriální
20%
AMK bez HPA
18%
lysosomální
peroxisomální
HPA a PKU 16%
4%
13%
ČR, 2005, n=127
incidence of aminoaciopathies for ČR ~ 1:3000
~ 20 pacients with HPA/PKU
~ 30 pacients with other AA/OAU
Diseases of small molecules
usually dependent on exogenous supply
(cid:132)
manifestation: (repeated) acute toxicity, usually
(cid:132)
with encephalopathy/coma
hepatopathy common
(cid:132)
common disturbances in routine labs-ammonia,
(cid:132)
Astrup, ketone bodies, glycemia, uric acid...
symptoms develop due to specific type of food,
(cid:132)
fasting, catabolism
chronic course possible (if toxicity low)
(cid:132)
usually good therapeutic response to diet and/or
(cid:132)
vitamins