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Mysteries of the Body

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Mysteries of the Body

Riddle

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About this activity

Unravel the secrets of health and illness in this riddle challenge.

Created by

Mi reina Cr
Mi reina Cr
United States

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Mysteries of the Body
 

Mysteries of the BodyOnline version

Unravel the secrets of health and illness in this riddle challenge.

by Mi reina Cr
1

Deficiency of B-globin

Hints

Splenomegaly, anemia several, pale, listless

Splice site mutation

Arms and legs abnormally, fracture easly

2

Deficiency of enzyme glucocerebrosidase

Hints

Buildup of fatty in liver, spleen, bones

Pain fully abdominal, anemia, fatigue, seizures, abnormal eye movements, muscle rigidity, skeletal abnormality, fractures

Splice sites mutation

AR heritage

3

Deficiency of enzyme b-hexosaminidase A

Hints

Accumulation of gangliosides in the brain

Reduced vision, startle response, acquired skills loss, seizures, early death

Splice sites mutation

AR heritage

4

Long glutamine tract

Hints

Gradually: Mod disturbance, impaired memory, hyperreflexia, chorea, loss of motor control, dystonia, dementia, dysphagia

Anticipation

AD heritage

5

Abnormal Chloride channel protein

Hints

Interference with folding and post translational processing of oligosaccharide.

AR heritage

6

mutation in AAT gene, variant S and Z most common.

Hints

AR Heritage

Misfold and agregate protein in liver (Endoplasmic Reticulum)

Biopsy: Micronodular cirrhosis and fibrosis

7

Deficiency of enzyme UDP-N-acetylglucosamine-phosphotransferase

Hints

AR heritage

Accumulation of mucolipids and mucopolysaccharides within the cells of many tissues

Coarse facial features, skeletal abnormalities (craniofacial, joint immobility, clubfoot, claw-hands, scoliosis), psychomotor retardation, growth retardation, mitral valve defect

Skin Biopsy: fibroblast with intracellular inclusions, large lysosomes

 
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