Inborn Error of CHO Metabolism

Question 1

three enzymes involved in galactose metabolism

Answer 1

o Galactose-1-phosphate uridyl transferase
o Galactokinase
o Uridine diphosphate galactose-4-epimerase (GALE)

Question 2

Congenital deficiency of one of three enzymes involved in galactose metabolism

Answer 2

Galactosemia

Question 3

The most important Melituria

Answer 3

galactosemia

Question 4

Causes the failure to thrive among infants (characteristics of infant where they do not meet the standard for a specific age group

Answer 4

galactosemia

Question 5

galactosemia diagnostic text:

Answer 5

Erythrocyte galactose-1-phosphate uridyl transferase
(detected in newborn screening)

Question 6

Fructose deficiency

Answer 6

essential fructosuria

Question 7

Fructose-1, 6-biphosphate aldolase B defect

Answer 7

hereditary fructose intolerance

Question 8

Deficiency of Fructose-1, 6-biphosphate (lacking)

Answer 8

FRUCTOSE-1, 6- BIPHOSPHATE DEFICIENCY

Question 9

Aka Glycogenoses

Answer 9

Glycogen storage dx (GSD)

Question 10

• Result of inherited deficiencies of enzymes that control the synthesis or
breakdown of glycogen
• Autosomal recessive trait except _

Answer 10

GSD

GSD IXa

Question 11

Most common GSD

Associated wit hyperlipidemia Aka Von Gierke

Answer 11

GSD 1a

Question 12

Manifests hepatomegaly, hypoglycemia, and growth retardation

o Liver Damage
o GSD which affects the liver: I, III, IV, VI, and IX

Answer 12

HEPATIC GLYCOGENOSES

Question 13

Manifests with exercise intolerance, muscle cramps, fatigue, weakness

Answer 13

MUSCLE GLYCOGENOSES

Question 14

Increased enzymes: Creatine Kinase (CK), Aspartate Aminotransferase (AST), Lactate
Dehydrogenase (LD), and Aldolase

o These enzymes are found in skeletal muscle cells

Answer 14

MUSCLE GLYCOGENOSES