ch. 15 glycogen storage diseases

practice matching

type 0

low BG, high ketone, early death

glycogen synthase

type Ia (von Gierke)

hepatomegaly, kidney failure

glucose 6-phosphate

type Ib

hepatomegaly, kidney failure, susceptible to bacterial infection

microsomal glycose 6-phosphate translocate

type Ic

hepatomegaly, kidney failure

microsomal P transporter

type II (Pompe)

infant death by age 2, juvenile myopathy, adult muscular dystrophy

lysosomal glucosidase

type IIIa (Cori or Forbes)

hepatomegaly (infants), myopathy

debranching enzyme

type IIIb

hepatomegaly (infants)

liver debranching enzyme (muscle normal)

type IV (Andersen)

hepatomegaly, splenomegaly, myoglobin in urine

branching enzyme 

type V (McArdle)

exercise induced cramps, myoglobin in urine

muscle phosphorylase

type VI (Hers)

hepatomegaly

liver phosphorylase

type VII (Tarui)

hepatomegaly, hemolytic anemia

muscle PFK-1

type VIs, VIII, IX

hepatomegaly

phosphorylase kinase

type XI (Fanconi-Bickel)

failure to thrive, hepatomegaly, rickets, kidney dysfunction

glucose transporter GLUT2