Diseases Flashcards
Kwashiorkor
-Severe protein deficiency
-Sufficient calories, but insufficient protein
-Enlarged fatty liver
“sugar babies”
Marasmus
- Protein-calorie deficiency
- very thin
- no energy
metabolic syndrom (syndrome x)
- HTN
- Obesity
- Dyslipidemia
- high blood sugar
- increased cardiac risk
Hartnup Disease
- Effects absorption of nonpolar amino acids, particularly tryptophan
- diarrhea, mood swings, red scaly rash when exposed to light
- treat with high protein diet
Cerebral Palsy
- Movement disorder
- Usually caused by brain damage occurring before birth, or in the first 5 years of life
- Symptoms are variable
MSU (maple syrup urine disease)
-Sweet smelling urine
-Branched-chain ketoacid dehyrogenase deficiency
-poor feeding, vomiting, lack of energy
-Treatment: Low protein
diet
PKU (Phenylketonuria)
-Phenylalanine hydroxylase deficiencyAutosomal recessive Sx:Intellectual disorders, seizures -Musty smelling urine/sweat (phenylacetate) Treatment: Low protein diet
Albinism
-Absence or defect of tyrosinase
Sx:
Sunburns/skin cancer
Photophobia, nystagmus, amblyopia
Galactokinase deficiency
- Juvenile cataracts
- Decreased conversion of galactose to galactose-1-phosphate by galactokinase
Dihydopteridine reductase Deficiency
- 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
Galactosylceramidase deficiency (Krabbe’s disease)
-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
GALT (galactose-1-phosphate uridyltransferase) deficiency
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
glactitol deficiency
- is not an enzyme!
- is the substance which causes cataracts in people with galactosemia.
Vit A deficiency
Nyctalopia–night blindness
Xerophthalmia–failure to produce tears
Major player in phototransduction
Changing light into electrical signals
Vit B1 (thiamine) deficiency
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
Vit B12 deficiency
Sx: Fatigue Inflammation of the tongue Decreased taste Numbness/Tingling Sign: Megaloblastic anemia
Vit C deficiency
- fatigue, pale or yellow skin, weight loss, bleeding gums, rash
Vit K deficiency
Sx: Easy bruising Oozing from nose or gums Excessive bleeding from injuries Heavy menstrual periods
Vit B2 (Riboflavin) deficiency
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)
Vit B3 (niacin) deficiency
Mild deficiency Sx:
indigestion, fatigue, cankersores, vomiting, depression
Severe deficiency Sx:
Called Pellagra:
Thick, scalypigmentedrash on skin exposedto sunlightd
Vit B6 (pyridoxine) deficiency
Sx:
Microcytic anemia
Electroencephalographic abnormalities
Dermatitis with cheilosis(scaling on the lips and cracks at the corners of the mouth)
Vit D deficiency
Sx:
Subtle to none
Risks:
Increased risk of death from cardiovascular disease
Cognitive impairment in older adults
Severe asthma in children
Cancer
Vit E deficiency
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
