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Hyperammonemia.Hyperammonemia Hyperammonemia.Hyperammonemia. NaeemNaeem AslamAslam.. FellowFellow--20102010 Univ.Univ. ofof Louisville.Louisville. KYKY ContentsContents ofof discussion.discussion. InterestingInteresting Case.Case. CausesCauses ofof highhigh ammoniaammonia (cirrhosis(cirrhosis isis notnot onlyonly cause)cause) MetabolismMetabolism ofof ammonia.ammonia. DiscussionDiscussion aboutabout thethe case.case. CaseCase 3939 yrsyrs oldold AAFAAF withwith h/oh/o GastricGastric bypassbypass (type(type 1)1) surgerysurgery inin 20082008 admittedadmitted forfor reversalreversal ofof bypassbypass surgery.surgery. MultipleMultiple admissionsadmissions inin thethe pastpast forfor excessiveexcessive weightweight loss,loss, weaknessweakness andand peripheralperipheral neuropathiesneuropathies secondarysecondary toto weightweight loss.loss. WeighedWeighed aroundaround >> 400400 poundspounds inin 03/0803/08 WeighedWeighed 225225 poundspounds inin 04/0904/09 PatientPatient waswas diagnoseddiagnosed withwith multiplemultiple vitaminvitamin deficienciesdeficiencies includingincluding B12,B12, copper,copper, ironiron andand thiaminethiamine andand beingbeing supplemented.supplemented. OtherOther issuesissues Anasarca.Anasarca. AnemiaAnemia ofof chronicchronic disease.disease. WeaknessWeakness-- usesuses canecane toto walk.walk. PMHPMH ObesityObesity s/ps/p gastricgastric bypassbypass PreviousPrevious admission.admission. HadHad elevatedelevated LFtsLFts andand foundfound toto havehave elevatedelevated ammoniaammonia level.level. StartedStarted onon LactuloseLactulose andand carnitorcarnitor.. S/pS/p LiverLiver biopsybiopsy LiverLiver biopsybiopsy 04/0904/09 AcuteAcute andand chronicchronic cholestasischolestasis andand panlobularpanlobular macrovesicularmacrovesicular steatosis.steatosis. Mod.Mod. PortalPortal inflammationinflammation withwith lymphocyteslymphocytes andand histiocytes.histiocytes. PSHPSH GastricGastric bypassbypass surgery.surgery. CC--sections.sections. SocialSocial historyhistory-- NoNo smoking,smoking, nono alcoholalcohol andand nono drugs.drugs. Medications.Medications. Vitamin B1 250 mg once a day. Vitamin B12 Calcium citrate plus D Iron MVI ASA Copper 2 mg PO once a day. Carnitor 330 mg PO BID Prilosec. Lortabl Exam.Exam. P.P. 100100 BPBP 131/87131/87 RRRR 2020 satssats 98%98% WastingWasting--temporal.temporal. ProminentProminent bonesbones aroundaround clavicularclavicular andand spinespine area.area. AlertAlert orientedXorientedX 33 CVSCVS s1s1 s2s2 ChestChest clearclear Abdomen,Abdomen, distended,distended, fluidfluid thrillthrill ++ EdemaEdema 2+2+ b/lb/l CNS.CNS. AlertAlert orientedoriented X3X3 4/54/5 allall limbs.limbs. WBC 11.75 HB 11.5 MCV 86 Plt 346 N 75% Total Bili 3.6 Direct 1.4 AST/ALT 62/62 Albumin 1.9 Alk. Phosph. PT 17.9 INR. 1.9 PTT 32.7 HospitalHospital coursecourse AdmittedAdmitted toto getget reversalreversal ofof gastricgastric bypass.bypass. StartedStarted onon TPNTPN toto buildbuild up.up. TPNTPN -- 12251225 CalCal 6060 GMGM AAAA Dextrose.Dextrose. 635635 KcalKcal LipidLipid 350350 KcalKcal 80%80% patientpatient estimatedestimated Kcal.Kcal. EnsureEnsure supplementssupplements BID.BID. th OnOn 44 dayday ofof hospitalizationhospitalization patientpatient gotgot confusedconfused andand GIGI consultedconsulted forfor highhigh AmmoniaAmmonia level.level. PatientPatient gotgot moremore worseworse andand unresponsiveunresponsive withwith AmmoniaAmmonia ofof 300300 andand transferredtransferred toto ICU.ICU. LabsLabs atat thatthat time.time. Na 138 ABG 7.5/44/64/34/94% K 4.4 PT/INR 16.5/1.7 CO2 31 BUN/CRT 12/0.6 Glucose 89 Total Bil. 3.8 AST/ALT 34/30 Alk Phosp 155 Ammonia 300 WBC 10.92 HB 10.6 PLT 210 N 79 MRIMRI Head.Head. NoNo evidenceevidence ofof acuteacute infarct.infarct. NoNo abnormalabnormal intensityintensity oror enhancementenhancement presentpresent withinwithin thethe brainbrain parenchyma.parenchyma. NoNo significantsignificant abnormalabnormal T1T1 signalsignal seenseen withinwithin basalbasal ganglia.ganglia. EEG.EEG. MetabolicMetabolic encephalopathy.encephalopathy. Folate.Folate. 8.08.0 (3(3--16)16) B12B12 >> 21002100 CeruloplasminCeruloplasmin 1414 (17(17--54)54) CopperCopper 7878 (80(80--155)155) SeleniumSelenium 3030 (23(23--190)190) ZincZinc 3131 5252 (60(60--120)120) ThiamineThiamine CarnitineCarnitine ?? History.History. ReviewReview ofof history.history. AdmittedAdmitted beforebefore-- GotGot TPNTPN andand ammoniaammonia wentwent up.up. Biopsy.Biopsy. AbnormalAbnormal butbut notnot cirrhotic.cirrhotic. ?? UREAUREA CYCLECYCLE DEFECTDEFECT ?? SerumSerum AminoacidAminoacid panelpanel andand urineurine aminoacidsaminoacids sent.sent. TPNTPN stopped.stopped. StartedStarted onon buphenylbuphenyl.. AmmoniaAmmonia startedstarted comingcoming down.down. PatientPatient gotgot moremore responsiveresponsive onon secondsecond day.day. GeneticGenetic counselercounseler consulted.consulted. ÆÆ TubeTube FeedFeed dietdiet ofof 6060 gmsgms ofof proteinprotein perper day.day. 50%50% ofof protein.protein. NaturalNatural proteinprotein (ensure/boost)(ensure/boost) 50%50% providedprovided throughthrough specializedspecialized formulaformula CyclinexCyclinex--22 (essential(essential aminoamino acids)acids) ÆÆ BuphenylBuphenyl ÆÆ Citrulline.Citrulline. Protein (L-amino acids), carbohydrates (corn syrup solids), fat (high oleic safflower, coconut, soy oils), L-carnitine, taurine, iron (ferrous sulfate), vitamins, minerals; contains phenylalanine; nonessential amino-acid free. Corn Syrup Solids, High Oleic Safflower Oil, Coconut Oil, Sodium Citrate, Soy Oil, L- EssentialEssential AAAA Leuccine,ine, L-Lysine Acetate, L-Valine, Calcium Phosphate, L-Isoleucine, Magnesium Phosphate, phenylalaninephenylalanine,, valinevaline,, Potassium Chloride, L-Tyrosine, L-Threonine, L-Phenylalanine, Silicon Dioxide, DATEM*, threoninethreonine,, tryptophantryptophan,, Potassium Citrate, Potassium Phosphate, L- Cystine Dihydrochloride, L-Histidine, L- isoleucineisoleucine,, methioninemethionine,, Methionine, L-Tryptophan, L-Carnitine, Calcium Carbonate, Ascorbic Acid, Taurine, leucineleucine,, andand lysinelysine Choline Chloride, m-Inositol, Ferrous Sulfate, Zinc Sulfate, Niacinamide, dl-Alpha-Tocopheryl Acetate, Calcium Pantothenate, Ascorbyl Palmitate, Mixed Tocopherols, Cupric Sulfate, Manganese Sulfate, Thiamine Chloride Hydrochloride, Vitamin A Palmitate, Riboflavin, Pyridoxine Hydrochloride, Folic Acid, Potassium Iodide, Chromium Chloride, Beta- Carotene, Biotin, Sodium Selenate, Phylloquinone, Sodium Molybdate, Vitamin D3, and Cyanocobalamin. SERUMSERUM AMINOACID.AMINOACID. ALANINE. ISOLEUCINE. ARGININE. LEUCINE. ASPARTIC ACID. LYSINE. CITRULLINE. METHIONINE. CYSTINE. ORNITHINE. GLUTAMIC ACID PROLINE. GLUTAMINE SERINE. GLYCINE. TAURINE. HISTIDINE HOMOCYSTINE. HYDROXYPROLINE. 2424 URINEURINE OROTIC ACID SUBERIC ACID LACTIC SEBACIC ACID. PYRUVIC PHENYLACETIC ACID SUCCINIC SUCCINLYACETONE FUMARIC KETOGLUTARIC METHYLMALONIC HYDROXYBUTYRIC ACETOACETIC KETOACIDS. ADIPIC ACID GLYCINEGLYCINE ÆÆ 724724 (140(140--490)490) GLUTAMINEGLUTAMINE ÆÆ 32103210 (410(410--700)700) CITRULLINECITRULLINE ÆÆ 15,15, 11(1011(10--60)60) ARGININEARGININE ÆÆ 5959 (40(40--160)160) ORNITHINEORNITHINE ÆÆ 4848 (20(20--135)135) ISOLEUCINEISOLEUCINE -- LOWLOW LEUCINELEUCINE -- LOWLOW LYSINELYSINE -- HIGHHIGH SERINESERINE -- HIGH.HIGH. GLYCINE Æ 724 (140-490) GLUTAMINE Æ 3210 (410-700) CITRULLINE Æ 15, 11(10-60) ARGININE Æ 59 (40-160) ORNITHINE Æ 48 (20-135) URINE.URINE. OROTICOROTIC ACID.ACID. 8.08.0 (.8(.8--2.7)2.7) GeneticGenetic testing.testing. BloodBlood sample.sample. OTCOTC deficiencydeficiency--GeneGene deletion/duplication.deletion/duplication. SequenceSequence analysisanalysis diddid notnot identifyidentify mutation.mutation. OTCOTC FullFull GeneGene squencingsquencing.. OneOne homozygoushomozygous (2(2 copies)copies) variantvariant cc 137137 AA--GG inin thethe OTCOTC genegene .. RepeatRepeat AAAA panelpanel inin 66 weeksweeks Citrulline.Citrulline. 107107 HH (10(10--60)60) ArginineArginine 105105 (40(40--105)105) OrnithineOrnithine 105105 (20(20--135)135) GlutamineGlutamine 368368 LL (410(410--700)700) GlycineGlycine 332332 (140(140--490)490) LiverLiver biopsy.biopsy. 09/200909/2009 MacrovesicularMacrovesicular steatosissteatosis portalportal andand pericellularpericellular fibrosisfibrosis andand progressiveprogressive cholestasis.cholestasis. CommentComment byby pathologist.pathologist. FattyFatty changechange andand pericellularpericellular fibrosisfibrosis hashas beenbeen reportedreported asas possiblepossible featurefeature ofof OTCOTC deficiency.deficiency. AscitesAscites fluidfluid FluidFluid protein.protein. 647647 mg/dlmg/dl FluidFluid AlbuminAlbumin <1.5<1.5 WBCWBC 66 USGUSG EchogenicEchogenic liverliver withwith slightslight nodularnodular contours.contours. ThisThis maymay representrepresent fattyfatty infilterationinfilteration butbut cirrhosiscirrhosis cannotcannot bebe ruledruled out.out. LargeLarge volumevolume ascites.ascites. GallGall bladderbladder withwith sludge.sludge. DopplerDoppler USG.USG. NonNon occlusiveocclusive thrombusthrombus--portalportal vein.vein. Ascites.Ascites. AmmoniaAmmonia Metabolism.Metabolism. ElevatedElevated Ammonia.Ammonia. Production.Production. Metabolism.Metabolism. ExcretionExcretion .. WhichWhich organorgan isis involvedinvolved inin ammoniaammonia metabolism.?metabolism.? T/FT/F GutGut Kidney.Kidney. Muscle.Muscle. Liver.Liver. Brain.Brain. NoneNone ofof thethe above.above. AllAll
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