Page 253 - Color Atlas Of Pathophysiology (S Silbernagl Et Al, Thieme 2000)

A. Effects of Enzyme Defect

Transport Transport

Substrate Substrate
A C
Defect Substrate Enzyme Y
A
Enzyme X Storage of A
Toxicity of A
Precipitation of A Enzyme Z
Metabolite Metabolite
B D
Deficiency
of B Metabolite Storage of B Overview, Amino Acids
E Toxicity of B
B. Phenylketonuria

NADP + Tetrahydropteridine L-phenylalanine
Tryptophan, Plate 8.1
L-phenylalanine other AA
Dihydropteridine Defect 1
reductase
2 Phenylalanine-4- Bypass
monooxygenase
NADPH+H +
Dihydropteridine Phenylpyruvate
L-tyrosine
In urine: Mental retardation,
Light sensitivity Melanin deficiency Phenylketonuria neurological disorders

C. Galactosemia (see next page for text)
2 ATP
Galactose
Galactokinase
ADP
Glucose-1-P
Galactose-1-P Hepatomegaly, jaundice
Defect 1
Galactose-1-uri- Galactitol
dyltransferase
UDP-galactose Cataract
Glucose-6-P
UDP-galactose- Damaged tubules
4-epimerase
UDP-glucose

Glucose Glycogen Mental retardation 243

Silbernagl/Lang, Color Atlas of Pathophysiology © 2000 Thieme
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