Chapter 8: 1.7 - Purine and Carbohydrate Disorder

Question 1

Other name for purine disorders

Answer 1

Lesch-Nyahan

Question 2

-failure to inherit the gene to produce the enzyme Hypoxanthine guanine phosphoribosyltransferase

Answer 2

Purine Disorders (Lesch-Nyahan Disease)

Question 3

enzyme not inherited in Leshc-Nyhan disease

Answer 3

hypoxanthine guanine phosphoribosyltranferase

Question 4

• severe motor defects,
• mental retardation,
• tendecy toward self-destruction, -gout and renal calculi

Answer 4

Lesch-Nyahan Disease

= Purine disorder

Question 5

Purine Disorder
-Urine color
texture

Answer 5

Orange sand in diapers = uric acid

Question 6

• presence of increased urinary sugar which is most frequently due to an inherited disorder

Answer 6

Melituria

Question 7

results in infant failure to thrive, combined with

• liver disorders
• cataracts
• severe mental retardation

Answer 7

Galactosuria - failure to convert galactose to glucose

Question 8

Galactosuria:

can be caused by defieciency of any of the three enzymes:

Answer 8

1. galactose-1-phosphate
2. galactokinase
3. UDP-glactose-4-epimerase

Question 9

galactoseuria enzyme deficiency:

• severe, fatal symptoms assoc with galacosemia
• included in newborn screening

Answer 9

galactose-1-phosphate uridyl transferase (GALT)

Question 10

galactoseuria enzyme deficiency:

-can result in cataracts in adulthood

Answer 10

galactokinase

Question 11

galactoseuria enzyme deficiency:

-may be asymptomatic or produce mildy symptoms

Answer 11

UDP-galactose-4-epimerase

Question 12

Glactose and Fructose test:
result
- dipstick
- clinitest

Answer 12

• dipstick = (-)

- clinitest/copper reduction = (+)

Question 13

Melituria

-may be seen during pregnancy and lactation

Answer 13

Lactosuria

Question 14

Melituria:

assoc. with parenteral feeding

Answer 14

Fructosuria