Disorders and conditions associated with disruptions in protein metabolism

Question 1

caused by a genetic mutation that leads to a deficiency of the enzyme phenylalanine hydroxylase.

Answer 1

Phenylketonuria (PKU)

Question 2

a rare genetic disorder that impairs the breakdown of branched-chain amino acids (leucine, isoleucine, and valine)

Answer 2

Maple Syrup Urine Disease (MSUD)

Question 3

this disorder can lead to the accumulation of ammonia in thr blood, causing hyperammonia

Answer 3

Urea Cycle Disorders

Question 4

results from genetic mutations that affect proteins involved in muscle structure ans functions

Answer 4

muscle dystrophy

Question 5

most common form of muscular dystrophy.

Answer 5

Duchenne muscular dystrophy

Question 6

2nd most common type of muscular dystrophy.

Answer 6

Becker muscular dystrophy

Question 7

most common type of muscular dystrophy thats diagnosed in adulthood. difficulty relaxing their muscles after using them.

Answer 7

Myotonic dystrophy

Question 8

refers to a group of muscular dystrophies that become apparent at or near birth. causes overall muscle weakness with possible joint stiffness or loseness

Answer 8

Congenital muscular dystrophies (CMD)

Question 9

dystrophy that affects the muscle of your hands, feet, lower arms and legs

Answer 9

Distal muscular dystrophy

Question 10

mainly affects children and young adults. tends to cause muscle weakness in your shoulders, upper arms and shins.

Answer 10

Emery-Dreifuss muscular dystrophy (EDMD)

Question 11

commonly affects muscle in your face, shoulders and upper arms.

Answer 11

Facioscapulohumeral muscular dystrophy (FSHD)

Question 12

affects muscles in your upper arms, upper legs, shoulders and hips

Answer 12

Limb-girdle muscular dystrophy (LGMD)

Question 13

weakens muscles in your eyelids and throat

Answer 13

Oculopharyngeal muscular dystrophy (OPMD)

Question 14

characterized by the accumulation of misfolded proteins, including beta-amyloid and tau, in the brain

Answer 14

Alzheimer’s disease

Question 15

associated with the buildup of alpha-synuclein protein aggregates in the brain, leading to the degenaration of dopaminergic neurons and motor symptoms

Answer 15

Parkinson’s disease

Question 16

caused by a mutation in the HTT gene, resulting in the production of a mutant huntingtin protein that accumulates in brain cells

Answer 16

Hintington’s disease

Question 17

severe form of malnutrition that results from a prolonged deficiency of calories, protein, and other essential nutrients in the diet.

Answer 17

Marasmus

Question 18

characterized by extreme emciation, muscle wasting, and stunted growthz often seen in children

Answer 18

Marasmus

Question 19

severe form of malnutrition that primarily affects children, particularly in regions with limited access to adequate nutrition

Answer 19

Kwashiorkor