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Clinical Correlates

Hereditary deficiency of GLUT-1

an insulin independent transporter;
> decreased glucose in CSF > intractable seizures in infancy + devo delay

rhabdomyolysis

destruction of muscle cells

aldolase A

absence of __ (in RBCs and muscle) > hemolytic anemia + episodes of rhabdomyolysis

triose phosphate isomerase (TPI)

deficiency of ___ >neonatal-onset hemolytic anemia + neuro involvment > diaphragm paralysis + cardiomyopathy ; >> increased glycerol phosphate shuttle use bc of increased DHAP

enolase

inhibited by fluoride; used in glucose tolerance tests to prevent glycolysis in pt blood samples

HbF

has 2 alpha + 2 gamma subunits > low affinity for BPG > high affinity for 02

HbA

has 2 alpha + 2 beta subunits > higher affinity for BPG > lower affinity for O2

maturity-onset diabetes of the young (MODY) type 2

mutation in glucokinase (GCK) gene; pts have nonprogressive hyperglycemia > managed w/ diet alone

phosphofructokinase (PFK) deficiency

inefficient use of glucose stores by RBC and muscle > glycogen accumulates in muscle > hemolytic anemia + muscle cramping

pyruvate kinase deficiency

leads to decreased production of ATP > RBC have insufficient ATP for their membrane pumps > hemolytic anemia => release of 1. heme -> bilirubin -> gallstones + 2. glycolytic metabolic intermediates such as 2,3,bpg & glucose-6-p

glucagon

used in beta-blocker overdose by increasing cAMP in the myocardium thru activation of adenylate cyclase

hexokinase

traps radiotope labeled glucose in cell for use in PET scans by converting glu > glu6p

rat poison

contains arsenic> inhibits pyruvate dehydrogenase > pyruvate increases in concentration but decrease TCA/ETC > decrease ATP production

RBCs

lack Glucose-6-phosphatase and cannot produce glucose from glucose-6-p

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