G-6- Phosphatase deficiency is seen in: (PGI Dec 2006)

Arts: A (Von Gierke's disease) Von Gierke's/Type I glycogen strorage disease || | | | |Inheritance Deficient enzyme Organ affected Structure of glycogen Clinical features| | | | |Autosomal recessiveQ G-6 phosphataseQ - Liver- Intestine- Kidney NormalQ (But metabolically not available - HypoglycemiaQ- HyperlipidemiaQ- Ketosis & acidosis-- - 2 Lactic acid- 2 Uric acidQ- HepatosplenogalyQTable (Harper 28th/l 60) : Glycogen Storage diseasesGlycogenosisNameCause of DisorderCharacteristics"Type 0-Glycogen synthaseHyperglycemia, Hyperketonemia; Early deathType IVon Gieke's diseseQDeficiency of glucose-6- phosphataseLiver cells and renal tubule cells loaded with glycogen. Hypoglycemia, lacticacidemia, ketosis, hyperlipemia.Type IIPompe's diseaseDeficiency of lysosomal a-l - 4 and l-6 - glucosidase (add malt- age)Fatal accumulation of glycogen in lysosomes, heart failure.Type IIILimit dextrinosis., forbes' or cori's diseaseAbsence of debranching ezymeAccumulation of a characteristic branched polysachha- rideType IVAmyiopectinosis, Andersen's diseaseAbsence of branching enzymeAccumulation of a polysaccharide having few branch points. Death due to cardiac or liver failure in first year of life.Type VMyophophorylase deficiency. McArdle's syndromeAbsence of musde phosphorylaseDiminshed exercise tolerance; muscles have abnormally high glycogen content (2.5- 4.1%). Little or no lactate in blood after exercise.Type VIHer's diseaseDeficiency of phosphofructokinase in muscle and erythrocytesAs for type V but also possibility of hemolytic anemiaType VIIITarui's diseaseDeficiency of liver phophorylase kinaseAs for type ViIX Liver & Musde Phosphorylase kinaseHepatomegaly; accumulation of glycogen in liver & muscle; mild hypog; ycemia; generally good prognosisX C-AMP dependent protein kinaseHepatomegaly; accumulation of glycogen in liver