GENETICS CASES A 50 YEAR OLD FEMALE PATIENT COMPLAINS OF PAIN AND SWELLING IN JOINTS AND SHOWS HYPERURICEMIA.

1) NAME THE PROBABLE DISEASE 2) NAME THE ENZYME DEFECT 3) NAME 2 DRUGS USED FOR TREATMENT OF THE DISEASE 4) WHAT IS THE NORMAL VALUE OF SERUM URIC ACID

A 4 YEAR OLD BOY COMPLAINS OF JOINT PAIN, AGGRESSIVE BEHAVIOUR, LEARNING DISABILITY AND URGE TO BITE HIS OWN FINGERS AND LIPS. HIS SERUM URIC ACID IS ABOVE NORMAL 1) NAME THE DISORDER 2) WHAT IS THE ENZYME DEFECT 3) WHAT IS THE NORMAL URIC ACID LEVEL 4) EXPLAIN THE CAUSE OF HYPERURICEMIA OBSERVED ABOVE

A BOY HAS DEVELOPED A TENDENCY OF BITING NAILS, FINGERS AND LIPS, OFTEN CAUSING SELF MUTILATION. HE ALSO SUFFERS FROM SPASTICITY AND MENTAL RETARDATION 1) NAME THE DISEASE 2) NAME THE DEFICIENT ENZYMES CAUSING THE DISEASE 3) NAME THE CONCERNED METABOLIC PATHWAY 4) EXPLAIN WHY ONLY MALES ARE AFFECTED WITH THIS DISEASE

A 50 YEAR OLD FEMALE PATIENT COMPLAINS OF PAIN AND SWELLING IN THE JOINTS AND SHOWS HYPERURICEMIA 1) NAME THE PROBABLE DISEASE 2) NAME THE ENZYME DEFECT 3) WHAT IS THE NORMAL VALUE OF SERUM URIC ACID 4) SUGGEST NUTRITONAL THERAPY

A 61 YEAR OLD WAS ADMITTED TO THE HOSPITAL AFTER HE COMPLAINED OF DULL PAIN IN THE UPPER LEFT FLANK FOR 4 DAYS. PHYSICAL EXAMINATION REVEALED NO OVERT SIGN OF A DISEASE. A URINE SAMPLE HAD A PH OF 4.5 AND WAS POSITIVE FOR PROTEINS.MICROSCOPIC EXAMINATION REVEALED FINE CRYSTALLINE MATERIAL AND NUMEROUS CASTS. SERUM URIC ACID LEVEL WAS 11.8 MG %. 1) GIVE YOUR DIAGNOSIS 2) URIC ACID IS THE END PRODUCT OF WHICH METABOLISM 3) WHICH FOODS SHOULD BE AVOIDED INT HIS DISEASE 4) GIVE TREATMENT OF THIS CONDITION

THE PATIENTS WERE BROTHERS, AGED 30 AND 35 YEARS, WHO HAD SUFFERED FROM GOUTY ARTHRITIS SINCE AGE 20. HIGH CONCENTRATIONS OF URINE AND SERUM URIC ACID WERE REDUCED WITH ALLOPURINOL.THE CONTENT OF PRPP IN THEIR ERYTHROCYTES WAS ABOVE NORMAL. 1) 2) 3) 4) DEFINE GOUT GIVE THE CAUSES OF PRIMARY GOUT GIVE CAUSES OF SECONDARY GOUT GIVE TREATMENT OF GOUT

AT THE AGE OF 6 MONTHS A BOY SHOWED SIGNS OF SLOW MOTOR DEVELOPMENT. HIS MOTHER HAD NOTICED ORANGE CRYSTALS ON HIS DIAPERS. THE BOY ALSO HAD A COMPULSIVE URGE TO BITE AT HIS FINGERS ANDLIPS. THE BOY HAD A YOUNGER BROTHER WITH SIMILAR SYMPTOMS. THE BOY HAD HIGH SERUM URIC ACID LEVEL AND URINARY URIC ACID EXCRETION 1) GIVE YOUR DIAGNOSIS 2) WHAT IS THE CAUSE OF THIS DISORDER 3) EXPLAIN THE REASON FOR THE UNUSUAL SYMPTOMS 4) THIS DISORDER INVOLVES METABOLISM OF WHICH BIOMOLECULE

A 45 YEAR OLD WOMAN EXHIBITED THE SKIN MANIFESTATIONS OF XERODERMA PIGMENTOSA. SHE WAS HEAVILY FRECKLED AND HAD A LENGHTY HISTORY OF SKIN CANCER.IN THE PAST 5 YEARS SHE HAD 35 NEOPLASMS EXCISED FROM SUN EXPOSED AREAS OF HER SKIN 1) WHAT IS THE CAUSE OF XERODERMA PIGMENTOSA 2) WHAT ARE THE TYPES OF DNA DAMAGES 3) ENUMERATE TYPES OF DNA REPAIR 4) NAME THE DISORDERS CAUSED DUE TO DNA DAMAGE