ABGC Boards Exam Prep Metabolic
Genetics With 100% Correct And Verified
Answers
Questions:
1)TThereTisTaTdefectTinTmetabolizingT_______TinTfattyTacidToxidationTdisorders.
2)TWhatTisTtheTspecificTmetabolicTprocessTthatTisTaffected?T-TCorrectTAnswer-Answer:
a)TFats
b)Tbeta-oxidation
Question:TTheseTdisordersTbelongTtoTwhatTgroupTofTmetabolicTdisorders?
MCAD
LCAD
VLCAD
CarnitineTuptakeTdeficiencyT-TCorrectTAnswer-
Answer:TTheseTdisordersTareTfattyTacidToxidationTdisorders
Question:TATnewbornTpresentsTwithTlethargyTandTvomiting.TFurtherTstudiesTshowTsheT
hasTlowTketonesTandTlowTbloodTsugar.TWhatTlaboratoryTtestsTwouldTyouTwantTtoTorde
rTtoTtryTtoTpinTdownTaTdiagnosis?T-TCorrectTAnswer-Answer:TplasmaTacylcarnitineT
(ThisTquestionTassumesTnewbornTscreenTwasTnotTcompleted/
didTnotTpickTupTaTproblem).
Question:TATpatientTisTnewlyTdiagnosedTwithTaTfattyTacidToxidationTdisorder.
T1)THowTwouldTsheTbeTinitiallyTtreated?T
2)TWhatTwouldTherTlong-termTmanagementTrecommendationsTbe?T-TCorrectTAnswer-
Answer:T
1)TDextrose,TearlyTuseTofTfluidsTtoTpreventThypoglycemia
2)TLowTfatTdiet,TavoidTprolongedTfasting,TnighttimeTfeedsTwhenTsick,TsupplementTwithT
carnitine.
SpecificallyTforTlong-chainTdisordersT(LCAD):TRecommendTfollowupTwithTcardiology
Questions:
1)TThereTisTaTdefectTinTmetabolizingT_______TinTorganicTacidTdisorders.
2)TCanTyouTdescribeTtheTdefectiveTprocess?T-TCorrectTAnswer-Answer:
1)TProteinTANDTfats
Genetics With 100% Correct And Verified
Answers
Questions:
1)TThereTisTaTdefectTinTmetabolizingT_______TinTfattyTacidToxidationTdisorders.
2)TWhatTisTtheTspecificTmetabolicTprocessTthatTisTaffected?T-TCorrectTAnswer-Answer:
a)TFats
b)Tbeta-oxidation
Question:TTheseTdisordersTbelongTtoTwhatTgroupTofTmetabolicTdisorders?
MCAD
LCAD
VLCAD
CarnitineTuptakeTdeficiencyT-TCorrectTAnswer-
Answer:TTheseTdisordersTareTfattyTacidToxidationTdisorders
Question:TATnewbornTpresentsTwithTlethargyTandTvomiting.TFurtherTstudiesTshowTsheT
hasTlowTketonesTandTlowTbloodTsugar.TWhatTlaboratoryTtestsTwouldTyouTwantTtoTorde
rTtoTtryTtoTpinTdownTaTdiagnosis?T-TCorrectTAnswer-Answer:TplasmaTacylcarnitineT
(ThisTquestionTassumesTnewbornTscreenTwasTnotTcompleted/
didTnotTpickTupTaTproblem).
Question:TATpatientTisTnewlyTdiagnosedTwithTaTfattyTacidToxidationTdisorder.
T1)THowTwouldTsheTbeTinitiallyTtreated?T
2)TWhatTwouldTherTlong-termTmanagementTrecommendationsTbe?T-TCorrectTAnswer-
Answer:T
1)TDextrose,TearlyTuseTofTfluidsTtoTpreventThypoglycemia
2)TLowTfatTdiet,TavoidTprolongedTfasting,TnighttimeTfeedsTwhenTsick,TsupplementTwithT
carnitine.
SpecificallyTforTlong-chainTdisordersT(LCAD):TRecommendTfollowupTwithTcardiology
Questions:
1)TThereTisTaTdefectTinTmetabolizingT_______TinTorganicTacidTdisorders.
2)TCanTyouTdescribeTtheTdefectiveTprocess?T-TCorrectTAnswer-Answer:
1)TProteinTANDTfats