Q: About a child with an autosomal recessive disease


 

(I-11) A 10-year old female child is brought to the hospital by her mother. The child shows metal retardation and during the physical exam you find hepatoesplenomegaly. Because of characteristic facial and skeletal deformities, you suspect a congenital metabolic disease. You request laboratory tests, which show urine excretion of heparan sulfate and dermatan sulfate. These compounds, which accumulate in some congenital diseases, are classified as:

 

 

 

 

a)     Disaccharides

 

b)     Homopolysaccharides

 

c)      Monosaccharides

 

d)     Mucopolysaccharides

 

e)     Oligosaccharides

 

f)       Oligopeptides

 

g)     Polypeptide

 

h)     Proteins

 

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