Diseases

Question 1

Kwashiorkor

Answer 1

-Severe protein deficiency
-Sufficient calories, but insufficient protein
-Enlarged fatty liver
“sugar babies”

Question 2

Marasmus

Answer 2

• Protein-calorie deficiency
• very thin
• no energy

Question 3

metabolic syndrom (syndrome x)

Answer 3

• HTN
• Obesity
• Dyslipidemia
• high blood sugar
• increased cardiac risk

Question 4

Hartnup Disease

Answer 4

• Effects absorption of nonpolar amino acids, particularly tryptophan
• diarrhea, mood swings, red scaly rash when exposed to light
• treat with high protein diet

Question 5

Cerebral Palsy

Answer 5

• Movement disorder
• Usually caused by brain damage occurring before birth, or in the first 5 years of life
• Symptoms are variable

Question 6

MSU (maple syrup urine disease)

Answer 6

-Sweet smelling urine
-Branched-chain ketoacid dehyrogenase deficiency
-poor feeding, vomiting, lack of energy
-Treatment: Low protein
diet

Question 7

PKU (Phenylketonuria)

Answer 7

-Phenylalanine hydroxylase deficiencyAutosomal recessive
Sx:Intellectual disorders, seizures
-Musty smelling urine/sweat
(phenylacetate)
Treatment: Low protein diet

Question 8

Albinism

Answer 8

-Absence or defect of tyrosinase

Sx:
Sunburns/skin cancer
Photophobia, nystagmus, amblyopia

Question 9

Galactokinase deficiency

Answer 9

• Juvenile cataracts

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

Question 10

Dihydopteridine reductase Deficiency

Answer 10

• Impaired renewal of tetrahydrobiopterin
• Decreased levels of dopamine, serotonin, and folate
• psychomotor delay, low muscle tone (hypotonia) Seizures, abnormal
• Treatment:
• Supplement: BH4 and folate
• No phenylalanine
• Meds to restore neurotransmitters in the brain movements

Question 11

Galactosylceramidase deficiency (Krabbe’s disease)

Answer 11

-Impairment of the GALC gene
-Galactosylceramidase hydrolyzes galactosylceramide, an important component of myelin
-Hypertonia/spasticity
Impaired development
Optic atrophy and blindness
Unexplained fevers
Treatment:
-Anticonvulsant medication to stop seizures
-Muscle relaxer drugs (to help ease muscle spasms)
-Physical therapy to help slow deterioration of muscles

Question 12

GALT (galactose-1-phosphate uridyltransferase) deficiency

Answer 12

Failure to metabolize galactose/lactose into glucose
-Back up of galactose causes symptoms
-Feeding difficulties
Lethargy
Failure to thrive
Jaundice
Liver damage
Abnormal bleeding
Sepsis
Tx:
-Eliminate lactose and galactose from the diet: Dairy products, avocados, sugar beets

Question 13

glactitol deficiency

Answer 13

• is not an enzyme!

- is the substance which causes cataracts in people with galactosemia.

Question 14

Vit A deficiency

Answer 14

Nyctalopia–night blindness

Xerophthalmia–failure to produce tears

Major player in phototransduction
Changing light into electrical signals

Question 15

Vit B1 (thiamine) deficiency

Answer 15

Sx:
Malaise, Weight loss, Confusion
Beriberi
Wet –fast heart rate, shortness of breath, difficulty moving the legs, pain

Dry –numbness, confusion, difficulty moving the legs, confusion

Wernicke-Korsakoff syndrome

Vision changes, ataxia, impaired memory

Question 16

Vit B12 deficiency

Answer 16

Sx:
Fatigue
Inflammation of the tongue
Decreased taste
Numbness/Tingling
Sign:
Megaloblastic anemia

Question 17

Vit C deficiency

Answer 17

• fatigue, pale or yellow skin, weight loss, bleeding gums, rash

Question 18

Vit K deficiency

Answer 18

Sx:
Easy bruising
Oozing from nose or gums
Excessive bleeding from injuries
Heavy menstrual periods

Question 19

Vit B2 (Riboflavin) deficiency

Answer 19

Sx:
Stomatitis
Sore throat
Chapped/fissured lips
Oily/Scaly rashes on the scrotum, vulva, philtrum of the lip, nasolabial folds
Itchy, watery, bloodshot eyes
Sensitivity to light
Anemia (normocytic, normochromic)

Question 20

Vit B3 (niacin) deficiency

Answer 20

Mild deficiency Sx:
indigestion, fatigue, cankersores, vomiting, depression

Severe deficiency Sx:
Called Pellagra:
Thick, scalypigmentedrash on skin exposedto sunlightd

Question 21

Vit B6 (pyridoxine) deficiency

Answer 21

Sx:
Microcytic anemia
Electroencephalographic abnormalities
Dermatitis with cheilosis(scaling on the lips and cracks at the corners of the mouth)

Question 22

Vit D deficiency

Answer 22

Sx:
Subtle to none

Risks:
Increased risk of death from cardiovascular disease

Cognitive impairment in older adults

Severe asthma in children

Cancer

Question 23

Vit E deficiency

Answer 23

Digestive system requires fat to absorb Vitamin D
Abetalipoproteinemia
Crohn’s disease
Cystic fibrosis
AVED (Ataxia and Vitamin E Deficiency)

Sx:
Peripheral neuropathy
Ataxia
Skeletal myopathy
Retinopathy
Immune impairment
Infertility