Disorders of amino acid metabolism

Disorders of amino acid metabolism

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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

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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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~ 400 g

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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

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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 pacients with HPA/PKU ~ 30 pacients with other AA/OAU

Diseases of small molecules „ „ „ „ „ „ „

usually dependent on exogenous supply manifestation: (repeated) acute toxicity, usually with encephalopathy/coma hepatopathy common common disturbances in routine labs-ammonia, Astrup, ketone bodies, glycemia, uric acid... symptoms develop due to specific type of food, fasting, catabolism chronic course possible (if toxicity low) usually good therapeutic response to diet and/or vitamins

Food and IEMs (small molecules) „

(sub)acute toxicity … milk

(lactose)-hepatopathy … saccharose/fructose/sorbitol- hepatopathy and hypoglycemia

…excess

protein- vomiting, lethargy, coma (urea cycle disorders, organic acidurias)

… MCT

oils- may be dangerous in MCAD deficiency

Patophysiology IEM substrate