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gene-linked abnormalities
Santrock, J. W. (2011). Essentials of lifespan development (2nd ed.). NY, USA: McGraw-Hill
10
Nursing
Undergraduate 2
06/01/2014

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Term
Describe Cystic-fibrosis
Definition

Grandular dysfunction that interfers with mucous production.

 

Inherited auto-somal disorder. Exocrine glands produce abnormally thick secretions of mucous and increase sweat electrolytes. (Mosby's dictionary, (2nd ed.))

Term
treatments for cystic fibrosis
Definition

physical and O2 therapy

synthetic enzymes

antiobiotics

 

-No known cure, treatment directed as prevention of respiratory infections (Mosby's Dictionary) 

Term
Describe Diabetes, type I
Definition
Body does not produce enough insulin, abnormal metabolism of sugar
Term
Describe haemophilia
Definition

delayed blood clotting causing internal and external bleeding

 

 

Term
Describe Huntington disease
Definition
CNS deteriotes. Problems in muscle co-ordination and mental deteriation
Term
Describe Phenylketonuria (PKU)
Definition

metabolic disorder that can cause mental retardation if left untreated

 

-abormal presence of phenylketone and other phenaylalanine metabolites in urine. Causes a deficiency of the enzyme phenylalanine hydrolyse (which causes the conversion of amino acid phenylalanine into tyrosine). As a result there is a buildup of phenylalanine. This is toxic to the brain (Mosby's dictionary)

Term
Signs and symptoms of PKU phenylketonuria
Definition
Untreated individuals have fair hair, eczema, ousy odour of skin and urine. Progressive intellectual disability
Term
Treatment for phenylketonuria
Definition

diet low in phenylalanine

 

for more info: http://depts.washington.edu/pku/about/diet.html

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