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 