Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
33 Cards in this Set
- Front
- Back
|
Neuropathy of hands/feet
Angiokeratomas CV/renal dz |
Fabry's (XR)
|
|
|
Fabry's deficiency
|
alpha-galctosidase A
|
|
|
Fabry's accumulation
|
Ceramide trihexoside
|
|
|
HSM, aseptic necrosis of femur
Bone crises |
Gaucher's (AR)
|
|
|
Gaucher's deficiency
|
beta-glucocerebrosidase
|
|
|
Gaucher's accumulation
|
Glucocerebroside
|
|
|
Progressive neurodegeneration
HSM, foam cells Cherry red spot |
Neimann-Pick (AR)
|
|
|
N-P deficiency
|
Sphingomyelinase
|
|
|
N-P accumulation
|
Sphingomyelin
|
|
|
Progressive neurodegeneration
Developmental delay Cherry red spot Lysosome onion skinning |
Tay-Sachs
|
|
|
Tay-Sach deficiency
|
Hexosaminidase A
|
|
|
Tay Sachs accumulation
|
GM2 ganglioside
|
|
|
Peripheral neuropathy
Developmental delay Optic atrophy Globoid cells |
Krabbe's (AR)
|
|
|
Krabbe's deficiency
|
Glactocerebrosidase
|
|
|
Krabbe's accumulation
|
Galactocerebroside
|
|
|
Central and peripheral demylination w/ ataxia
Dementia |
Metachromatic leukodystrophy (AR)
|
|
|
Meta lueko deficiency
|
Arylsulfatase A
|
|
|
Meta Lueko accumulation
|
Cerebroside sulfate
|
|
|
Developmental delay
Gargoylism Airway obstruction, HSM Corneal clouding |
Hurler's (AR)
|
|
|
Hurler's deficiency
|
alpha-L-iduronidase
|
|
|
Hurler's accumulation
|
Heparan sulfate
Dermatan sulfate |
|
|
Mild Hurlers + aggressive behavior
No corneal clouding |
Hunter's (XR)
|
|
|
Hunter's deficiency
|
Iduronate sulfatase
|
|
|
Hunter's accumulation
|
Heparan sulfate
Dermatan sulfate |
|
|
Lysosomal storage and Jews
|
Tay Sachs
Niemann Pick Gaucher's (some forms) |
|
|
Severe fasting hypoglycemia
++ glycogen in linger + blood lactate Hepatomegaly |
Von Gierke's (type I)
|
|
|
Von Gierke's deficiency
|
glucose 6 phosphatase
(G6P to glucose and P) |
|
|
Cardiomegaly & systemic findings
Early death |
Pompe's (type II)
|
|
|
Pompe's deficiency
|
Lysosomal alpha 1,4 glucosidase (acid maltase)
|
|
|
Milder Von Gierke's
Normal blood lactate |
Cori's (type III)
|
|
|
Cori's deficiency
|
Debranching enzyme alpha 1,6 glucosidase
(limit dextran to glucose) |
|
|
+ glycogen in muscle, can't break down
Painful muscle cramps Myoglobinuria w/ strenuous exercise |
McArdle's (type V)
|
|
|
McArdle's deficiency
|
Skeletal muscle glycogen phosphorylase
(glyocgen to G1P) |
