Diseases/Syndromes

Question 1

Von Gierka

Answer 1

Glycogen metabolism
Glucose-6-phosphatase deficiency
Glucose cannot reach blood (G1P to glucose)

Question 2

McArdle

Answer 2

Glycogen metabolism
Muscle phosphorylase deficiency
G1P cannot become glycogen

Question 3

Ehlers Danlos Syndrome

Answer 3

Collagen
Hyperextensible skin
Lax joints

Question 4

Phenylketonuria

Answer 4

Uric acid metabolism
Phenylalanine hydroxylase deficiency 
Phenylalanine converted into phenylketones 
Avoid animal products 
Tyrosine deficiency

Question 5

TaySachs

Answer 5

Lipid metabolism
Excess gangliosides
Cherry red spot

Question 6

Primary Hyperthyroidism

Answer 6

Grave’s disease
Toxic multinodular goiter
Low TSH
High T4

Question 7

Secondary Hyperthyroidism

Answer 7

TSH secreting pituitary adenoma
High TSH
High T4

Question 8

Primary Hypothyroidism

Answer 8

Iodine deficiency
Hashimoto’s thyroiditis
High TSH
Low T4

Question 9

Secondary Hypothyroidism

Answer 9

Hypopituitarism
Hypothalamus disease
Low TSH
Low T4

Question 10

PDH deficiency

Answer 10

Glycolysis
Excess pyruvate therefore excess alanine
Increased gluconeogenesis

Question 11

Leigh’s disease

Answer 11

Mitochondrial DNA mutation
PDH deficiency
Weakness and lactic acidosis