Metabolic Conditions

Question 1

Lack/absence of thryroid hormone

Answer 1

Congenital Hypothyroidism (CH)

Question 2

due to defects in the production of adrenal gland hormones

Answer 2

Congenital Adrenal Hyperplasia

Question 3

a metabolic disorder in which the body cannot properly use an amino acid called phenylalanine

Answer 3

Phenylketonuria (PKU)

Question 4

unable to process galactose

Answer 4

Galactosemia (GAL)

Question 5

body lacks enzyme called G6PD

Answer 5

Glucose-6-Phosphate Dehydrogenase

Question 6

deficiency of an enzyme that converts the amino acid homocysteine into cystathionine

Answer 6

Homocystinuria

Question 7

sickle-shape cells that can become stuck in blood vessels causing pain and organ damage

Answer 7

Sickle cell disease

Question 8

error involving the metabolism of the branched chain amino acids that results in mental retardation and sometimes death

Answer 8

Maple Syrup Urine Disease (MSUD)

Question 9

absence of this protein causes the production of thick mucus and fluids that result in chronic respiratory and digestive problem

Answer 9

Chronic fibrosis