Nucleic Acids (KING)

Question 1

4 y/o child with recurrent infections
retarded development, weakness and weight loss
(-) tonsils
lack of lymphocytes

Answer 1

SEVERE COMBINED IMMUNODEFICIENCY SYNDROME (SCID)

deficiency in ADENOSINE DEAMINASE (ADA)

increased adenosine (blood) and deoxyadenosine (blood and urine)

Question 2

7 y/o male
delayed motor devt, overexaggerated reflexes and spasticity
chew his lips and fingers –> tissue damage and bleeding
painful, swollen and inflamed joints

Answer 2

LESCH NYHAN SYNDROME

deficiency in HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HGPRT)

elevated URIC ACID and XANTHINE