4/19/2015

GeneticsofGlycogenStorageDiseaseTypeI

GeneticsofGlycogenStorageDiseaseTypeI
Author:KarlSRoth,MDChiefEditor:BruceBuehler,MDmore...
Updated:Dec11,2013

Background
In1929,vonGierkeprovidedtheinitialdescriptionofglycogenstoragediseasetypeI(GSDI)fromautopsyreports
of2childrenwhoselargeliverscontainedexcessiveglycogen.Healsoreportedsimilarfindingsinthekidneys.Both
childrenhadfrequentnosebleedsbeforetheirdeaths,consistentwithhistoriesdocumentedincurrentpatients.
In1952,CoriandCorireported6similarpatients. [1]Twoofthepatientshadalmosttotaldeficiencyofhepatic
glucose6phosphatase,whereastheremaining4hadnormalenzymeactivity.Theseauthorsrecognizedthat
defectsintheenzymologyofhepaticglycogenstoragediseasemaycauseaheterogeneousgroupofdisorders.
However,themysteryofpatientswiththeseclinicalsymptoms(despitenormalphosphataseactivity)remained
unsolveduntil1978,whenNarisawaetalidentifiedadefectinintracellulartransportoftheenzymesubstrate. [2]
Inrecognitionoftheoriginalclinicaldescriptionofthedisease,thetypeICoriclassificationhasbeenpreserved
glycogenstoragediseasetypeIa(GSDIa)designatesthetrueenzymedefect,andglycogenstoragediseasetypeIb
(GSDIb)designatestheintracellulartransportdefect.Becausefreeglucoseistheproductofthehepaticglucose6
phosphatasereaction,eithertypeleadstoaccumulationofliverglycogen,accompaniedbyfastinghypoglycemia.
Hepatomegaly,thenaturalconsequenceofglycogenaccumulation,istheclinicalhallmarkofthedisease.

ContributorInformationandDisclosures
Author
KarlSRoth,MDProfessorandChair,DepartmentofPediatrics,CreightonUniversitySchoolofMedicine
KarlSRoth,MDisamemberofthefollowingmedicalsocieties:AlphaOmegaAlpha,AmericanAcademyof
Pediatrics,AmericanCollegeofNutrition,AmericanPediatricSociety,AmericanSocietyforClinicalNutrition,
AmericanSocietyofNephrology,AssociationofAmericanMedicalColleges,MedicalSocietyofVirginia,New
YorkAcademyofSciences,SigmaXi,SocietyforPediatricResearch,andSouthernSocietyforPediatric
Research
Disclosure:Nothingtodisclose.
SpecialtyEditorBoard
EdwardKaye,MDVicePresidentofClinicalResearch,GenzymeCorporation
EdwardKaye,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofNeurology,American
SocietyofGeneTherapy,AmericanSocietyofHumanGenetics,ChildNeurologySociety,andSocietyfor
InheritedMetabolicDisorders
Disclosure:GenzymeCorporationSalaryManagementposition
MaryLWindle,PharmDAdjunctAssociateProfessor,UniversityofNebraskaMedicalCenterCollegeof
PharmacyEditorinChief,MedscapeDrugReference
Disclosure:Nothingtodisclose.
HagopYoussoufian,MD,MScVicePresidentofClinicalResearch,ImCloneSystemsIncorporated
HagopYoussoufian,MD,MScisamemberofthefollowingmedicalsocieties:AmericanSocietyforClinical
Investigation,AmericanSocietyofClinicalOncology,AmericanSocietyofHematology,andAmericanSocietyof
HumanGenetics
Disclosure:Nothingtodisclose.
PaulDPetry,DO,FACOP,FAAPConsultingStaff,FreemanPediatricCare,FreemanHealthSystem
PaulDPetry,DO,FACOP,FAAPisamemberofthefollowingmedicalsocieties:AmericanAcademyof
Osteopathy,AmericanAcademyofPediatrics,AmericanCollegeofOsteopathicPediatricians,andAmerican
OsteopathicAssociation
Disclosure:Nothingtodisclose.
ChiefEditor
BruceBuehler,MDProfessor,DepartmentofPediatricsandGenetics,DirectorRSA,UniversityofNebraska
MedicalCenter
BruceBuehler,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyforCerebralPalsyand
DevelopmentalMedicine,AmericanAcademyofPediatrics,AmericanAssociationonMentalRetardation,
AmericanCollegeofMedicalGenetics,AmericanCollegeofPhysicianExecutives,AmericanMedical
Association,andNebraskaMedicalAssociation
Disclosure:Nothingtodisclose.

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