Diseases Flashcards

1
Q

Kwashiorkor

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Marasmus

A
  • Protein-calorie deficiency
  • very thin
  • no energy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

metabolic syndrom (syndrome x)

A
  • HTN
  • Obesity
  • Dyslipidemia
  • high blood sugar
  • increased cardiac risk
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Hartnup Disease

A
  • Effects absorption of nonpolar amino acids, particularly tryptophan
  • diarrhea, mood swings, red scaly rash when exposed to light
  • treat with high protein diet
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Cerebral Palsy

A
  • Movement disorder
  • Usually caused by brain damage occurring before birth, or in the first 5 years of life
  • Symptoms are variable
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

MSU (maple syrup urine disease)

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

PKU (Phenylketonuria)

A
-Phenylalanine hydroxylase deficiencyAutosomal recessive
Sx:Intellectual disorders, seizures
-Musty smelling urine/sweat
(phenylacetate)
Treatment: Low protein diet
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Albinism

A

-Absence or defect of tyrosinase

Sx:
Sunburns/skin cancer
Photophobia, nystagmus, amblyopia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Galactokinase deficiency

A
  • Juvenile cataracts

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Dihydopteridine reductase Deficiency

A
  • 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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Galactosylceramidase deficiency (Krabbe’s disease)

A

-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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

GALT (galactose-1-phosphate uridyltransferase) deficiency

A
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

glactitol deficiency

A
  • is not an enzyme!

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Vit A deficiency

A

Nyctalopia–night blindness

Xerophthalmia–failure to produce tears

Major player in phototransduction
Changing light into electrical signals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Vit B1 (thiamine) deficiency

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Vit B12 deficiency

A
Sx:
Fatigue
Inflammation of the tongue
Decreased taste
Numbness/Tingling
Sign:
Megaloblastic anemia
17
Q

Vit C deficiency

A
  • fatigue, pale or yellow skin, weight loss, bleeding gums, rash
18
Q

Vit K deficiency

A
Sx:
Easy bruising
Oozing from nose or gums
Excessive bleeding from injuries
Heavy menstrual periods
19
Q

Vit B2 (Riboflavin) deficiency

A
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)
20
Q

Vit B3 (niacin) deficiency

A

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

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

21
Q

Vit B6 (pyridoxine) deficiency

A

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

22
Q

Vit D deficiency

A

Sx:
Subtle to none

Risks:
Increased risk of death from cardiovascular disease

Cognitive impairment in older adults

Severe asthma in children

Cancer

23
Q

Vit E deficiency

A
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