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Keyboard Associations

Condition ⇔ Deficiency/Symptom

•Alkaptonuria ⇔ Homogentisic oxidase

•Cori’s Disease (Glycogen Storage III) ⇔ Amylo 1, 6-glucosidase

•Pompe’s (Glycogenesis II) ⇔ α-1,4 glucosidase

•Von Gierke’s (Glycogenesis I) ⇔ Glucose-6-phosphatase

•McArdle’s (Glycogenesis V) ⇔ Muscle phosphorylase

•Galactosemia ⇔ Galactose-1-phosphate uridyl transferase

•Tay-Sachs ⇔ Hexosaminidase A

•Hurler’s ⇔ α-L-Iduronidase

•Gaucher’s ⇔ Glucocerebrosidase

•Niemann-Pick ⇔ Sphingomyelinase

•Phenylketonuria ⇔ Phenylalanine hydroxylase

•Wilson’s disease (Hepatolenticular degeneration) ⇔ Decreased serum ceruloplasmin (a copper binder)

•Cystic fibrosis ⇔ Exocrine malfunction, thick mucus, sweat test (high Cl^-), chromosome 7

•Sickle Cell anemia ⇔ Afro-Americans, Chromosome 11, hypoxia

•Alpha-Thalassemia ⇔ Insufficient alpha-globin, chromosome 16, Bart’s anemia

•Beta-Thalassemia ⇔ beta-globin deficiency, Cooley’s anemia

•ADA (Adenosine deaminase) ⇔ Impaired A and T