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23 Cards in this Set

  • Front
  • Back
Tay-Sachs
Deficiency
Accumulation
hexosaminidase A
GM2 ganglioside
Gaucher Disease
Deficiency
Accumulation
Glucocerebrosidase
Glucocerebroside
Niemann-Pick Disease
Deficiency
Accumulation
Sphingomyelinase
Sphingomyelin
Von-Gierke Disease
Deficiency
Accumulation
G6P-ase
glycogen
Pompe Disease
Deficiency
Accumulation
alpha 1,4-glucosidase
glycogen
Cori Disease
amylo-1,6-glucosidase
glycogen
McArdle Syndrome
Deficiency
Accumulation
Muscle phosphorylase
glycogen
Galactosemia
Deficiency
Accumulation
galactose-1-phosphate uridyl transferase
galactose 1 phosphate
Phenylketonuria
Deficiency
Accumulation
Phenylalanine hydroxylase
phenylalanine and degradation products
Alkaptonuria
Deficiency
Accumulation
homogentisic oxidase
homogentisic acid
Hunter Syndrome
Deficiency
Accumulation
L-Iduronosulfate sulfatase (Hurler Syndrome is alpha-L-Iduronosulfate)
Heparan sulfate, dermatan sulfate
Fabry Disease
Deficiency
Accumulation
alpha-galactosidase A
ceramide trihexoside
G6PD deficiency
Deficiency
Accumulation
G6PD
none
Classic hemophilia (A)
Deficiency
Accumulation
Factor VIII
Lesch-Nyhan syndrome
Deficiency
Accumulation
HGPRT
uric acid
DMD
Deficiency
Accumulation
Dystrophin
none
Maternal PKU
congenital heart dz
growth retardation
microcephaly
MR
Protective effects of PKU
less spontaneous abortion
Fabry dz - clinical features
skin lesion s(angiokeratomas) on lower trunk
febrile episodes
severe burning pain in extremities
CV and cerebrovascular involvement
death from renal failure, in early adulthood
male pseudohermaphrodite
46XY, external genitalia not clearly male, but has testes
female pseudohermaphrodite
46XX, has ovaries, but external genitalia are not clearly female
Maple Syrup urine disease - clinical
mental and physical retardation
neonatal death
when is infant PKU screeening done
3-4 days after birth, otherwise false -