Metabolic Disorders

Front 1

Disorders of Fructose Metabolism

Back 1

1. Essential Fructosuria
2. Fructose Intolerance

Front 2

Essential Fructosuria

Defective Enzyme

Back 2

• Fructokinase

Front 3

Essential Fructosuria

Genetic Presentation

Back 3

• Autosomal recessive

Front 4

Essential Fructosuria

Severity

Back 4

• Benign, Asymptomatic
• Milder symptoms than analogous galactose metabolism disorders

Front 5

Essential Fructosuria

Pathology

Back 5

• Fructose is not trapped in cell

Front 6

Essential Fructosuria

Symptoms

Back 6

• Fructose appears in blood and urine

Front 7

Fructose Intolerance

Defective Enzyme

Back 7

• Aldolase B

Front 8

Fructose Intolerance

Genetic Presentation

Back 8

• Autosomal recessive

Front 9

Fructose Intolerance

Pathology

Back 9

• Fructose 1-Phosphate accumulates
• -- decrease in available phosphate
• ----inhibits glycogenolysis/gluconeogenesis

Front 10

Fructose Intolerance

Presentation

Back 10

• Present upon consumption of fruit, juice, honey
• Urine dipstick is negative (it only tests glucose)
• reducing sugars can be detected in urine

Front 11

Fructose Intolerance

Symptoms

Back 11

• Hypoglycemia
• Jaundice
• Cirrhosis
• Vommiting

Front 12

Fructose Intolerance

Treatment

Back 12

• Lower intake of fructose and sucrose (glucose + fructose)

Front 13

Disorders of galactose metabolism

Back 13

1. Galactokinase Deficiency
2. Classic Galactosemia

Front 14

Galactokinase Deficiency

Pathology

Back 14

• Galactitol accumulates

Front 15

Galactokinase Deficiency

Presentation

Back 15

• Symptoms begin when infant begins feeding
• Galactosemia
• Galactosuria
• Failure to track objects
• Failure to develop a social smile

Front 16

Galactokinase Deficiency

Symptoms

Back 16

• Infantile Cataracts
  

Front 17

Classic Galactosemia

Defective Enzyme

Back 17

• Absence of Galactose 1-phosphate uridyltransferase

Front 18

Classic Galactosemia

Pathology

Back 18

• Accumulation of toxic substances
• --including galactitol

Front 19

Classic Galactosemia

Presentation/Symptoms

Back 19

• Failure to thrive
• Jaundice
• Hepatomegaly
• Infantile cataracts
• Intellectual disability
• Can lead to E-coli Sepsis in neonates

Front 20

Classic Galactosemia

Treatment

Back 20

• Exclude galactose and lactose from diet

Front 21

Sorbitol

pathway

Back 21

Front 22

Sorbitol

Back 22

• traps glucose-alcohol in cell
• can be converted to fructose

Front 23

Sorbitol Dehydrogenase Deficiency

Back 23

• Causes osmotic damage
• --cataracts, retinopathy, peripheral neuropathy

Front 24

Lactase Deficiency

Primary

Back 24

• age-dependent decline after childhood
• -- absence of lactase-persistent allele
• Common in Asian, African, or Native American descent

Front 25

Lactase Deficiency

Secondary

Back 25

• Loss of brush border due to gastroenteritis
• -- rotavirus, autoimmune disease, etc

Front 26

Glycogen regulation by

Insuline and glucagon/epinephrine

Back 26

Front 27

Glycogen Storage Disease

Type I

Back 27

• Von Gierke Disease

Front 28

Glycogen Storage Disease

Type II

Back 28

• Pompe Disease

Front 29

Glycogen Storage Disease

Type III

Back 29

• Cori Disease

Front 30

Glycogen Storage Disease

Type IV

Back 30

• Andersen Disease (amylopectinosis)

Front 31

Glycogen Storage Disease

Type V

Back 31

• McArdle Disease

Front 32

Glycogen Storage Disease

Type VI

Back 32

• Hers' Disease

Front 33

Glycogen Storage Disease

Type 0

Back 33

• Glycogen Synthase Deficiency

Front 34

Von Gierke Disease

Type I GSD

Deficient Enzyme

Back 34

• Glucose 6-Phosphate

Front 35

Von Gierke Disease

Type I GSD

Findings

Back 35

• Severe Fasting Hypoglycemia
• Very high glycogen in the liver
• High blood lactate
• High triglycerides
• High Uric Acid (Gout)
• Hepatomegaly

Front 36

Von Gierke Disease

Type I GSD

Treatment

Back 36

• Frequent Oral Glucose/Cornstarch
• Avoidance of fructose and galactose

Front 37

Glycogen Synthase Deficiency

Type 0 GSD

Findings

Back 37

• Hypoglycemia
• Occasional muscle cramping
• Occasional growth failure

Front 38

Pompe Disease

Type II GSD

Findings

Back 38

• Cardiomegaly
• Hypertrophic cardiomyopathy
• Exercise Intolerance
• Systemic Finds leading to early death

Front 39

Pompe Disease

Type II GSD

Deficient Enzyme

Back 39

• Lysosomal alpha-1,4 glucosidase
• Active alpha-1,6 glucosidase

Front 40

Cori Disease

Type III GSD

Deficient Enzyme

Back 40

• Debranching Enzyme
• -- alpha-1,6-glucosidase

Front 41

Cori Disease

Type III GSD

Findings

Back 41

• Similar but less severe symptoms than Von Gierke
• -- normal lactate levels
• Accumulation of limit dextrin-like structures in the cytosol

Front 42

Andersen Disease

Type IV GSD

Defective Enzyme

Back 42

• Amylo-alpha(1,4)-->alpha(1,6)-transglucosidase

Front 43

Andersen Disease

Type IV GSD

Findings

Back 43

• Hepatomegaly
• Cirrhosis
• No hypoglycemia
• Failure to thrive
• Poor life expectancy

Front 44

McArdle Disease

Type V GSD

Deficient Enzyme

Back 44

• Glycogen Phosphorylase (skeletal Muscle)
• -- Myophosphorylase

Front 45

McArdle Disease

Type V GSD

Findings

Back 45

• High glycogen in the muscle but the muscle can't break it down
• -- Painful Muscle cramps
• Myoglobinuria (red urine) apparent after strenuous exercise
• Arrhythmia
• -- electrolyte abnormalities
• Second-Wind phenomenon noted during exercise
• -- increased muscular blood flow

Front 46

Hers' Disease

Type VI

Deficient Enzyme

Back 46

• Glycogen Phosphorylase (PLP cofactor)

Front 47

Hers' Disease

Type VI

Findings

Back 47

• Benign presentation
• Hepatomegaly
• Short stature

Front 48

Ketoacidosis

Build up of what Ketone Bodies

Back 48

• Beta-hydroxybutyrate
• Acetoacetate

Front 49

Ketoacidosis

in starvation/diabetes

Back 49

• OAA is depleted as it is used for gluconeogenesis

Front 50

Ketoacidosis

in alcoholism

Back 50

• excess NADH shunts OAA --> malate
• --leads to the buildup of acetyl-CoA

Front 51

Ketoacidosis

Process

Back 51

• Acetyl-CoA shunts glucose and FFA toward the production of ketone bodies

Front 52

Ketoacidosis

Presentation

Back 52

• Fruity Breath
• Urine test positive for acetoacetate