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;
36 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
Zellwenger syndrome |
Peroxisomes / pipercolate oxidase |
Very long chain FA |
|
|
REF SUM |
Peroxisomes / pipercolate oxidase |
|
|
|
Jamaican Vomiting Sickness |
Peroxisomes / pipercolate oxidase |
|
|
|
Von gierke's |
GSD type 1 Cherub like facies Glucose 6 phosphate |
|
|
|
Pompe's dse |
GSD 2 Lysosomal acid Maltase |
|
|
|
Coris dse |
GSD 3A α 1,6 glucosidase |
|
|
|
Mcardle |
GSD 5 muscle phosphorylase |
|
|
|
Tarui's dse |
GSD 7Phospho fructokinase |
R. L. For glycolysis |
|
|
Fabry's Dse |
α galactosidase A |
|
|
|
Canavan dse |
Aspartoacylase Infant cant see cant hear |
|
|
|
CAH |
11 β hydroxylase def (17,21) Ambigous genitalia |
|
|
|
Menke's dse |
Coper dependent enzyme - cytochrome oxidase |
Kinky hair |
|
|
Wilson's dse. |
Membrane bound CU binding ATPase |
|
|
|
Smith lemli Opitz Syndrome |
7 - Dehydrocholesterol Reductase (DHCR) syndactyly, hypogonadism |
|
|
|
SCID |
Adenosine Draminase Deficiency |
|
|
|
Alper's Dse |
Pyruvate Dehydrogenase |
|
|
|
Hallevprde 's Spatz Dse. Pantothenate Kinase Assoc. neurodegeneration (PKAN) |
Cystein dioxygenase |
Eye of the tiger sign |
|
|
Homocystinuria |
Cystathioninr synthetase |
|
|
|
G6PD def |
Glucose 6 phospahate dehtdrogenase |
|
|
|
Galactosemia |
Galactose 1- phosphate Uridyl transferase |
|
|
|
Gaucher's Dse |
glucocerebrosidase |
Crumpled paper appearance |
|
|
Krabbe dse |
Galactosylceramide β galactosidase ( GALC) |
|
|
|
Tau sach's dse |
Hexominidase |
Cherry red spot on retina |
|
|
Lesch - nyhan dse |
HGPRTase Sel mutilation, GOUT |
|
|
|
Alkaptonuria |
Homogentisic acid oxidase |
|
|
|
Lactose intolerance |
Lactose |
|
|
|
Mucopolysaccharidoses |
Lysosomal hydrolase def Gags |
|
|
|
Metachromatic leukodystrophy |
Acryl sulfatase A |
|
|
|
Acute intermittent porphyria |
PBG Deaminase |
|
|
|
Porphyria Cutenea Tarda |
Uroporphyrinogen decarboxylase Dracula's dse |
|
|
|
PKU |
PHenylalanine hydroxylase |
|
|
|
Albinism/ vitiligo |
Tyrosinase |
|
|
|
Niemann pick dse |
Sphingomyelinase |
|
|
|
ALS |
Superoxide dismutase |
|
|
|
Mitochondria |
Mito fato F A oxidation A cetyl COA T CA O xidative Phosphorylation |
|
|
|
BOTH |
H eme U rea G luconeogenesis |
|
