Severe hypoglycemia, increased uric acid and renal failure are seen in?
ANSWER: (B) Glycogen storage disorderREF: Nelson 18th ed table 87-1, Harper 27th ed chapter 33See APPENDIX 18 "GLYCOGEN STORAGE DISORDERS"VON GIERKE'S DISEASEPurine overproduction and hyperuricemia in von Gierke's disease (glucose-6-phosphatase deficiency) occurs secondary to enhanced generation of the PRPP precursor ribose 5- phosphate. An associated lactic acidosis elevates the renal threshold for urate, elevating total body urates.Von Gierke's Disease Features:Severe fasting hypoglycemiaFatty liver with hepato and renomegalyProgressive renal diseaseGrowth retardation and delayed pubertyHyperlacticacidemia, hyperlipidemia, hyperuricemia APPENDIX - 18Glycogen Storage Disorders:NumberEnzymedeficiencyEponymHypoglycemiaHepatomegalyHyperlipidemiaMusclesymptomsDevelopment/prognosisOthersymptomsGSD type Iglucose-6-phosphatasevonGierke'sdiseaseYesYesYesNoneGrowthfailureLacticacidosis,hyperuricemiaGSD type IIadd maltasePompe'sdiseaseNoYesNoMuscleweaknessDeath by age ~2 years (infantile variant)heart failureGSD type IIIglycogendebrancherCoris disease or Forbes' diseaseYesYesYesMyopathy GSD type IVglycogenbranchingenzymeAndersendiseaseNoYes,alsocirrhosisNoNoneFailure to thrive, death at age ~5 years GSD type Vmuscle glycogen phosphorylaseMcArdlediseaseNoNoNoExercise-inducedcramps,Rhabdo-myolysis Renal failure by myoglobinuriaGSD type VIliver glycogen phosphorylaseHers'diseaseYesYesNoNone GSD type VIImusclephospbo-fructokinaseTarui'sdiseaseNoNoNoExercise- induced muscle cramps and weaknessgrowthretardationHaemolyticanaemiaGSD type DCphosphorylase kinase, PHKA 2 NoNoYesNoneDelayedmotordevelopment,Growthretardation GSD type XIglucose transporter, GLUT 2Fanconi-BickelsyndromeYesYesNoNone GSD type XIIAldolase ARed cell aldolase deficiency???Exerciseintolerance,cramps GSD type XIIIb-enolase ???Exerciseintolerance,crampsIncreasing intensity of myalgias over decadesSerum CK: Episodic elevations; Reduced with restGSD type 0glycogensynthase YesNoNoOccasionalmusclecramping
Carbohydrate metabolic disorder
Glycogen storage disorder
Lipoprotein deficiency disorder
Protein folding disorder
Glycogen Metabolism and Glycogen Storage