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