Glucose Metabolism Diseases

Question 1

Pyruvate carboxylase deficiency

Answer 1

Increased lactate, alanine, hypoglycemia

Question 2

Fructokinase deficiency

Answer 2

Mild, fructose in urine, taken over by hexokinase

Question 3

Aldolase B deficiency

Answer 3

Accumulation of fructose 1 P and DHAP

Question 4

GALK deficiency

Answer 4

Nonclassical galactosemia

Question 5

GALT deficiency

Answer 5

Classical galactosemia

Question 6

G6PDH deficiency

Answer 6

Lack NADPH, build up of ROS
Hemolytic anemia, Heinz bodies

Question 7

Tay-Sachs

Answer 7

Build up of gangliosides (GM2)
White film, bright red fovea

Question 8

Niemann-Pick

Answer 8

Build up of sphingomyelin
Foamy liver cells, hepatomegaly

Question 9

Gaucher’s

Answer 9

Build up of glucocerebroside
Gauche cells - build up of macrophages, enlarged spleen

Question 10

Hunter (Type II)

Answer 10

Dermatan sulfate deficiency
Coarse facies, developmental delay, cardiac disease, enlarged spleen/liver, joint dysplasia, GAGs in urine

Question 11

Hurler (Type I)

Answer 11

Dermatan sulfate deficiency
Same symptoms as Hunter + cloudy eyes

Question 12

MCAD

Answer 12

Infant non-ketotic hypoglycemia
No beta oxidation, no gluconeogenesis, no acetyl CoA for ketone bodies

Question 13

Zellweger syndrome

Answer 13

Issue with peroxisomes, build up of VLCFA

Question 14

Refsum’s disease

Answer 14

Deficient alpha-oxidation of phytanic acid