Diseases and their Deficiencies Flashcards
Type 2 Glycogen Storage Disease
POMPE
Cardiomegaly
Muscle weakness
Alpha- 1,4- glucosidase
Type 3 Glycogen Storage Disease
CORI
Mild hypoglycemia
Liver enlargement
Glycogen debranching enzyme
Type 4 Glycogen Storage Disease
ANDERSEN
Infantile hypotonia
Cirrhosis
Glycogen branching enzyme
Type 5 Glycogen Storage Disease
McARDLE
Muscle cramps and weakness on exercise
No hypoglycemia
Muscle glycogen phosphorylase
Type 6 Glycogen Storage Disease
HERS
Hypoglycemia
Cirrhosis
Hepatic glycogen phosphorylase
Type 7 Glycogen Storage Disease
Muscle cramps
Muscle phosphofructokinase
Type 8 Glycogen Storage Disease
Hypoglycemia
No neuromuscular symptoms
Hepatic phosphorylase kinase
Type 1 Glycogen Storage Disease
VON GIERKE
Severe hypoglycemia
Glucose- 6- phosphatase
Bernard- Soulier Syndrome
Glycoprotein 1b (bridging factor that attaches to vWF in normal platelet aggregation)
Glanzmann Thrombastenia
Glycoprotein IIb - IIIa Complex (a protein complex found in platelet’s surface where fibrinogen attaches to form a fibrin meshwork)
Tay- Sachs Disease
Neurons ballooned with cytoplasmic vacuoles
Lysosomes filled with gangliosides
Cherry red spot on macula
Hexosaminidase alpha subunit deficiency
Niemann- Pick Disease
Zebra bodies (cytoplasmic bodies resembling lamellated myelin figures)
Massive splenomegaly and hepatomegaly
Cherry red spot on macula
Sphingomyelinase
Gaucher Disease (MC Lysosomal Storage Disorder)
Gaucher cells - Crumpled tissue paper
Glucocerebrosidase
Mucopolysaccharidoses:
Type 1: HURLER
alpha- L- iduronidase
Mucopolysaccharidoses:
Type 2 HUNTER
Idyronosulfate sulfatase
Alkaptonuria (1st human inborn error of metabolism)
Ochronosis (blue-black pigmentation of the ears, nose, cheeks)
Black urine if allowed to stand
Homogentisic oxidase (converts homogentisic acid to methylacetoacetic acid)
