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DISEASES

Type I: Von Gierkes

Inability to convert glc-6-P to 3Glc Problem in the liver

Infants have hypoglycemia

o Sleeping results in low blood glco Treatment: Feed raw corn starch

Digests slowlymaintains blood glc lvls Low Blood Glc

o Increase Ketoneso Increase Lactate

Makes Glc-6-P build up Does to 2 places:

o Glycogen Enlarged livers

o PPP (Pentophosphate Pathway) Deals with 5C sugars Goes to Ribose-5-P Urate Uric Acid (gout)

Type II: Pompes Disease

Autosomal Recessive Deficiency of acid a-(1,4) Glucosidase Some glycogen end up in the lysosomes

o Only 1-2% of glycogen get degraded results in accumulationo Rips off free glc units off glycogeno Infants can die in a year

Infantile (IIa) is the most fatal

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Juvenile (IIb) is the 2nd fatal Adult (IIc)

o Respiratory failure, muscle weaknesso Survivable

Treatment: High protein dietType III: Limit Dextranosis / Forbes Disease (IIIa) / Coris (IIIb)

Deficiency in debranching enzyme Autosomal recessive Affects muscle & liver Enlarged liver Cant break a-(1,6) linkage

o Abnormal structure Low blood glc, muscle weakness Treatment: Frequent feeding, high protein diet

o Bring insulin lvls down to decrease glycogeno Increases glucagon

Hyperlipidemiao Increased cascade of degrading triglycerides

Scarring of liverType IV: Andersens Disease

Deficiency of branching enzyme / Amylopectinosis Get very long linear structures with little branching Triggers immune response & starts attacking Cardiac or liver failure Fatal

Type V: McArdels Syndrome / Myophosphorylase Deficiency

Deficiency in muscle phosphorylase Normal: Provide HK to make lactate from Glc-6-P

o Sick: Glc-6-P doesnt exist 2-4% glycogen in muscle (more than normal) Muscle weakness Test [ExerciseLevels of lactate over time]

o Normal: Lactate lvls will increase over time is then decreaseo Sick: Lactate lvls dont changeo ADP rest ~8 microM

Normal: 40 microM during exercise Sick: 200 microM during exercise

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Can drop to 100 microM Muscle breakdown due to high acidity or lack of energy

Type VI: Hers Disease / Liver Phosphorylase Deficiency

Similar to Type I Difficulty in converting 3Glc Treatment: Corn starch High levels of glycogen in liver

Type VII: Taurs Disease

PFK deficiency in muscle Makes too much Glc-6-P

o Can only go to glycogen or PPP as it cant go to pyr due to lack of PFK Too much glycogen Increased Frc-6-P Lack of ability to make ATP Can also occur in the blood

Type VIII

Deficiency in phosphorylase kinase X-linked chromosome Liver Similar to Type I & Type VII

Type IX

Deficiency phosphorylase kinase Affects all tissues

Type 0: Glycogen Synthase Deficiency

Treatment: Frequent feeding, Using carbs that digest slowly, High protein diet