Genetics and Metabolic Disorders Flashcards
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CADASIL
Presentation/Cause
FND, demetia, asymptommatic/
AD, NOTCH3
Alexander Disease
Presentation/Cause
milestone regression, seizure, ataxia, leukodystrophy, Rosenthal fibers/
GFAP on 17
Canavan Disease
Presentation/Cause
Macrocephaly, intellectual decline, leukodystrophy/
AR, aspartoacylase def, ASPA gene
Metachromatic Leukodystrophy
Presentation/Cause
seizure, personality changes, leukodystrophy, vision changes/
AR, arylsulfatase A def
Krabbe Disease
Presentation/Cause
milestone regression, seizure, neuropathy, leukodystrophy/
galactocerebrosidase def
globoid cells
Homocystinuria
Presentation/Cause/Treatment
Marfanoid habitus, developmental delay/
AR on 21, cystathionine B synthase def/
pyridoxine + low protein diet
Ornithine transcarbamylase deficiency
Presentation/Cause
newborn with lethargy, hypotonia, seizure, resp alkalosis/
x-linked recessive
Lesch-Nyhan Disease
Presentation/Cause/Treatment
newborn with severe hypotonia, seizure, self-mutilation/
Xlinked, hypoxanthine-guanine phosphoribosyltransferase def/
purine restricted diet
Pompe Disease
Presentation/Cause
hypotonia, cardiomegaly, resp distress/
AR, alpha-glucosidase def
McArdle Disease
Presentation/Cause
exercise intolerace, rhabdo, “second-wind”/
myophosphorylase def
Hartnup Disease
Presentation/Cause/Treatment
dermatitis, diarrhea, cognitive issues/
AR, niacin deficiency, SLC6A19 on 5/
high protein diet
phenalalanine and typtophan in urine
Niemann-Pick disease
Presentation/Cause
hepatosplenomegaly, cherry red spot/
AR, sphingomyelinase def
foam cells
Gaucher Disease
Presentation/Cause
hepatosplenomegaly, bruising, spasticity/
glucocerebrosidase def
wrinkled tissue paper cells
Fabry disease
Presentation/Cause
small fiber neuropathy, cardiac and renal disease/
x-linked, alpha-galactosidase def
lipids in blood vessels, angiokeratomas, corneal opacity
Rett Syndrome
milestone regression, dec head circumference, stereotypic hand movements/ MECP2 gene
