Genetic disorders Flashcards
Marfan syndrome
AD
disorder of CT d/t fibrilliin defect
skeletal problems, loose joints, lens dislocation, aoritic dissection, mitral valve lesion
Ehlers-Danlos
AD
heterogeneous group of disorders caused by defect in collagen synthesis
hyperextensible, lax joints, stretchable and fragile skin
familial hypercholesterolemia
AD
mutation in LDL-R –>loss of feedback control
elevated cholesterol and premature atherosclerosis
Tay-Sachs
sphingolipidoses
lack of hexosmidase–>buildup of Gm2 ganglioside
cherry red spot on macula
progressive mental and motor deterioration
early death
Niemann Pick disease
sulfatidoses
lack of spingomyelinase causes extensive lysosomal accumulation of sphingomyelin
Type A= neuro and visceral involvement
HSM, FTT, lymphadenopathy, cherry red spots
fatal early in life
Gaucher disease
loss of glucocerebrosidase and accumulation of glucocerebroside in phagocytes
cells are not vacuolated, fibrillated cytoplasm (tissue paper)
Type I= no brain involvement: splenomegaly, lymphadenopathy, erosion of bone
compatible with long life
TYpe I: neurons damage, early onset, more severe
Gaucher type I
pancytopenia, thrombocytopenia
pathological fx, bone pain
gaucher type II
pancytopenia, thrombocytopenia (d/t spleen involvement)
pathological fx
with mental deterioration, NS dysfunction and convulsions
Hurler syndrome
Mucopolysaccharidoses builds up
coarse facies, clouding of cornea, joint stiffness, mental retardation, HSM
most severe form of MPS diseases
death early on due to CV complications
AR
Hunter syndrome
MPS II
NO clouding of cornea
coarse facies, , joint stiffness, mental retardation, HSM
Von Gierke
increased glycogen storage in liver and hypoglycemia
oss of Glucose 6 phosphatase
hepatomegaly, renomegaly, hypoglycemia,hyperlipidemia
more serious, most survive childhood
succumb to late complications
McArdle syndrome
Type V
muscle phosphofructokinase
impaired glycogen utilization in the muscles
muscle weakness and cramping
normal life expectancy
Pompe syndrome
acid maltase defect
glycogen storage in may organs, death early on
massive cardiomegaly
Akaptonuria (ochronosis)
IEM
defective degradation of tyrosine
accumulation of homogentisic acid
gives tendons, CT, cartilage black/blue coloration
accumulates in joints, degrades bones
degenerative arthropathies that manifests in mid-30’s
