Disorders of amino acid metabolism
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General comments on AA metabolis 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 and defects in creatine synthesis
~ 400 g
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Energy stores Energy store
amount tissue (g)
Glycogen
liver
Glycogen
muscle
Glucose
blood
Triacylglycerols
fat
Proteins
muscle
energy (kj)
(kcal)
70
1176
280
120
2016
480
20
336
80
15 000
567 000
135 000
6000
100 800
24 000
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Protein requirements
Protein intake
Patients with disorders of AA metabolism beta-oxidace a OAU 14%
sacharidy 12% puriny/pyrimidiny 3%
mitochondriální 20%
AMK bez HPA 18%
HPA a PKU 13%
peroxisomální 4%
lysosomální 16%
ČR, 2005, n=127
incidence of aminoaciopathies for ČR ~ 1:3000 ~ 20 patients with HPA/PKU ~ 30 patients with other AA/OAU
Patophysiology IEM substrate vedl.produkt 150 Pt
*
In vivo metabolite determination Před léčbou
Creatine deficiency in brain (MRS)
Po léčbě
Biochemical and clinical findings
GAMT AGAT CRTR
H-MRS Creat
GAA U,P,CSF
CR U,P
n
() n(U)
()
CR/CRN U — —
*
Clinical findings: developmental delay, various neurological problems, delayed speech, seizures
Therapy deficiency correction GAMT
AGAT
CRTR
correction of alternatives accumulation
supplement restriction supplement ARG ORN CR Supplement --------CR supplement ----CR, ARG GLY*
Aminoacidopathies-mechanisms Amino acid accumulation Ammonia accumulation Carbon skeleton accumulation- organic acids Product deficiency