Metabolic errors

Question 1

Cystic Fibrosis

Answer 1

D/S Disorder of exocrine glands with copious amounts of thick mucus; affects lungs, pancreas
E/T Biochemical defect as autosomal recessive trait
S/S Increased salt in sweat, wheezy respirations, dry cough, dyspnea, tachypnea
D/X Presence of abnormal amount of salt in sweat; pulmonary and pancreatic insufficiencies
T/X Supportive therapy, physical therapy, salt replacement
P/P Poor; no cure/None known

Question 2

Phenylketonuria (PKU)

Answer 2

D/S Autosomal recessive defect resulting in error in PKU metabolism
E/T Phenylalanine accumulates in blood and urine
S/S Mental retardation
D/X Elevated blood phenylalanine, urine phenylpyruvic acid levels
T/X Protein-restrictive diet; monitoring blood, urine levels
P/P Sooner diet is started, better prognosis/Genetic counseling, PKU testing at birth