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- W2185817897 abstract "SUMMARY Two newborninfants, male(A)andfemale(B),withlethal hyperammonaemia are described inthesame family. Inboth, symptoms started on thesecond dayoflife. Lethargy and hypotonia werethemostprominent initial findings andwerefollowed byconvulsions andcoma. Inboth, bloodammonialevels roseto570,umol/l (798,ug/100 ml)afewhoursbefore death, which occurred on thethird andfourth dayoflife respectively. Assayofliver ureacycle enzymesinbaby Bshowed a complete absence ofmitochondrial carbamyl phosphate synthetase activity. Hereditary enzymedefects oftheureacycle have beendiagnosed withincreasing frequency during the lastfewyearsascausesofsevereneurological damage ordeath during infancy andchildhood. Five distinct disorders havebeendescribed so far, involving each oneofthefive enzymes oftheKrebsHenseleit ureacycle (Levin, 1971; ShihandEfron, 1972;Scriver andRosenberg, 1973); hyperammonaemia duetocarbamyl phosphate synthetase (CPS)deficiency; hyperammonaemia duetoornithine transcarbamylase (OTC)deficiency; citrullinaemia duetoargininosuccinic acid(ASA) synthetase deficiency; ASAuria duetoASAlyase deficiency; andargininaemia duetoarginase deficiency. Allfive disorders haveasimilar clinical picture characterised by protein intolerance, vomiting, seizures, and various degrees ofmental retardation associated with hyperammonaemia. Ithasalsorecently been recognised thatthese disorders cancauseneonatal death. We report 2newborn infants withneonatal hyperammonaemia inthesamefamily. Inoneof them, inwhichenzymestudies weredone, noCPS activity wasfound. Casereports Case1.BabyAwasatermmale, bornafter anormal pregnancy anduncomplicated delivery, birthweight 3600g.Themother was23,thefather 27years old, andbothwereapparently healthy. Themother's grandmother andthefather's grandfather werefirst" @default.
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- W2185817897 date "1978-01-01" @default.
- W2185817897 modified "2023-09-26" @default.
- W2185817897 title "Neonatal hyperammonaemia withcomplete absence ofliver carbamyl phosphate synthetase activity" @default.
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