AR diseases Flashcards
Cystic fibrosis
1: 2,500
mutation in both copies of gene: CFTCRP: cystic fibrosis transmembrane conductance regulatory protein which produces mucous, sweat and digestive fluids
- mutation causes thickening of fluids: difficulty breathing, coughing mucous+ lung infections - poor growth, syndactyly and infertility in men
Phenylketonuria
1: 6000 inborn
error on metabolism of AA (phenylalanine/tyrosine)
- due to absence of phenylalanine hydrolase
symptoms: low birth weight, small head or heart problems
if untreated: intellectual disability, seizures, behavioural +mental problems, and lighter skin
Wilson’s disease
Cu accumulation in tissues
manifest in:
- liver disease: weakness, itchiness, yellow-ish,excess abdominal fluid, vomiting
- brain related: personality change, muscle stiffness, trouble speaking, brown ring at edge of cornea, tremor
Congenital adrenal hyperplasia
mutation of enzyme that mediates cortisol (from cholesterol by adrenal gland)
- deficiency/ excess of sex steroids
- affects development of primary and secondary sex characteristics (adults, children and infants)
Glycogen storage disease
defect in processing of glycogen in muscle or liver
Hurler’s syndrome
buildup of glycosaminoglycans due to absence of enzyme in lysosome
- causes: buildup of heparan+ dermatan sulphate
Tay-Sachs disease
rare, common in ashkezani jews
Progressive deterioration of nerve cells in brain.
Decline in physical+ mental abilities by 7 months age, death followed around 4y
occurred to overaccumulation of sphingolipids in the cells
Hemoglobinopathy
structural defect in globin chain of HB
monogenic (mutation in one gene- single gene disorder)
Albinism
1: 10,000 inborn
complete/partial absence of melanin in skin, hair and nails
defect/absence of tyrosinase (Cu-containing enzyme that helps w production of melanin)
Microcephaly
small head+ brain
intellectual disability; delayed speech+language
mild seizures
