Diseases and deficiencies

Question 1

Hartnup disease

Answer 1

Deficiency: defect transporter for non-polar or neutral AA’s
Buildup: tryptophan (Kidneys)
Clinical: failure to thrive, nystagmus, intermittent ataxia, tremor & red, scaly rash usually when exposed to light *

Question 2

Cerebral palsy

Answer 2

Deficiency: brain damage in cerebral part of the brain, usually caused before birth
Clinical: movement disorder, variable

Question 3

Maple Syrup urine disease (MSUD)

Answer 3

Deficiency: ketoacid dehyrogenase ;unable to digest branched AA (VIL)
Buildup: VIL AA
Clinical: vomiting, poor feeding, lethargy, delayed developments, seizure, coma, death, sweet smelling urine
Treatment: low protein diet

Question 4

Phenylketonuria (PKU)

Answer 4

Deficiency: phenylalanine hydroxylase
Buildup: tyrosine
Clinical: Intellectual disorders, brain damage, musty smelling urine, if UT seizures, decrease pigment…
Treatment: low protein diet

Question 5

Albinism

Answer 5

Deficiency: tyrosinase
Buildup: -melanin
Clinical: sunburns/skin cancer, photophobia, nystagmus, amblyopia

Question 6

Juvenile cataracts

Answer 6

Deficiency: galactokinase

decreased conversion of galactose to galactose-1-phosphate by galactokinase

Question 7

Malignant hyperphenylalaninemia

Answer 7

deficiency: dihydropteridine reductase
decreased: tetrahydrobiopterin, serotonin, dopamine, folate
Clinical: psychomotor delay, hypotonia, seizures, abnormal movements, too much salivation
Treatment: BH4 and folate, no F, meds for neurotransmitters

Question 8

Krabbe’s disease

Answer 8

Deficiency: GALC gene
decreased: galactosylceramidase which decreases myelin
Clinical: hypertonia, spasticity, impaired development, optic atrophy unexplained fevers, deafness, irritability

Question 9

GALT

Answer 9

Galactose-1-phosphate uridyl transferase
deficiency: can’t metabolize galactose/lactose
Clinical: feeding difficulties, lethargy, failure to thrive, jaundice, liver damage, abnormal bleeding, sepsis, developmental delay, cataracts
Treatment: eliminate lactose and dairy from diet

Question 10

Galactitol

Answer 10

Substance that causes cataracts

Question 11

Kwashiorkor

Answer 11

deficiency: protein (severe) after weaning
Clinic: edema of extremities, light colored skin, thinning hair, distended abdomen, shiny skin, ulcerating dermatoses, anemia, irritable, enlarged fatty liver

Question 12

Marasmus

Answer 12

deficiency: protein and calories (extreme)
Clinic: emaciated, chronic diarrhea, respiratory infections, intellectual disability, stunted growth, apathy, no energy, weight is less than 62% expected

Question 13

Vitamin A deficiency

Answer 13

1. Nyctalopia- night blindness
2. Xerophthalmia- failure to produce tears
3. Major player in phototransduction
   Treatment: orange veggies

Question 14

Vitamin B1 (thiamine) deficiency

Answer 14

1. Malaise
2. Weight loss
3. confusion

Question 15

Beriberi (wet)

Answer 15

Vitamin B1/ thiamine deficiency

1. fast heart rate, SOB, difficulty moving the legs, pain

Question 16

Beriberi (dry)

Answer 16

Vitamin B1/ thiamine deficiency

2. numbness, confusion, difficulty moving the legs

Question 17

Wernicke-korsakoff syndrome

Answer 17

Vitamin B1 (thiamine) deficiency due to alcoholism
1. Vision changes, ataxia, impaired memory

Question 18

Vitamin B12 (cobalamin) deficiency

Answer 18

1. Fatigue
2. inflammation of the tongue
3. numbness/tingling
4. megaloblastic anemia- >4 nuclei in RBC can’t divide
   absorbed in the terminal illeum (Crohn’s disease)

Question 19

Vitamin C (ascorbic acid) deficiency

Answer 19

1. bleeding from the gums, rash, mental confusion
2. fatigue
3. SOB
4. Dizziness
5. pale/yellow skin
6. bleeding from the gums

Eat citrus

Question 20

Vitamin K (phytonadione) deficiency

Answer 20

1. blood blood blood- clotting issues
2. heavy periods
3. Internal bleeding (GI)
4. blood in urine and/or stool
5. increased prothrombin time (PTT)- how long it takes your blood to clot

Question 21

Vitamin B2 (Riboflavin)

Answer 21

1. Stomatitis-inflamed mouth, sore throat, chapped lips, oily/scaly skin on thin skin areas (reproductive system, lip), bloodshot eyes, itchy eyes, sensitivity to light anemia (normocytic, normochromic)
   eat eggs, hamburger, fish almonds-fatty

Question 22

Vitamin B3 (Niacin/nicotinic acid)

Answer 22

indigestion, fatigue, canker sores, vomiting

eat broccoli and avocados

Question 23

Pellagra

Answer 23

Extreme vitamin B3 deficiency
thick, scaly pigmented rash on skin exposed to sunlight, swollen mouth and tongue, apathy, depression, disorientation, memory loss

Question 24

Vitamin B6 (pyridoxine) deficiency

Answer 24

microcytic and microchromic anemia, electroencephalographic abnormalities, dermatitis with cheilosis, glossitis, depression, confusion, weaked immune function
bananas, meat, nuts

Question 25

Vitamin D (calcitriol) deficiency

Answer 25

SUBTLE but can be devestating- cancer, severe asthma, cognitive impairments

Question 26

Vitamin E (tocopherol)

Answer 26

Important for the digestion of fat
-crohns, cystic fibrosis, AVED, abetalipoproteinemia
Sx: peripheral neuropathy, ataxia, skeletal myopathy, retinopathy, immune impairment, infertility

Question 27

Tauri disease

Answer 27

deficient: PFK-1 (RLS glycolysis)
buildup: glucose, F6P
Clinical: hemolytic anemia, high bilirubin and jaundice, RBC lyse

Question 28

Hemolytic anemia

Answer 28

deficient: RBC membrane, nutrition, infections, hemoglobinopathies (shapes), glycolytic enzymes
buildup: lysed RBCs
clinical: elevated dehydrogenase
unconjugated bilirubin

Question 29

Fanconi-bickel syndrome

Answer 29

deficiency: GLUT2 mutation, auto recessive
buildup: no glucose, fructose and galactose
clinical: failure to thrive, hepamegaly, tubular nephropathy, abdominal bloating, and resistant rickets

Question 30

Cystinuria

Answer 30

deficient: defect in transport system of cystine and dibasic AA (COAL)
build up: COAL, cystine crystals in kidney
Clinical = renal colic, hard to see on image