citrulinemia prakar I

citrulinemia prakar I (see. tii. ell. aine. 1), jyala arginosucinate synthetagechi kamatarata asehi mhanatat, haah eka durmil rog aahe joou argininosucinate synthetage kamataratemule hoto, joou shariratoon atirikt nitrogen utsarjit karnyat guntalela eka enzyme aahe. yaa rogache saumya aanee gambhir prakar aahet, jeey euria chakr vikaranpaiki eka aahe.
chinhe aanee lakshane.
arbhakanmadhye see. tii. ell. aine. 1 chee chinhe aanee lakshane raktatil amoniachi vadhati patali aanee cerebrospinal dravpadarthamule udbhavtat aanee tyat jaast ulatya, bhook naan lagane, khanyas nakar dene, chidchid, intracranial daab vadhane aanee susti, apasmar, hypotonia, shwasan samasya, hepatomegally aanee cerebral edema yancha samavesh hoto. hii lakshane janmachya kahee divasant rogachya adhik gambhir swarupat, aanee utsechakachya purn kamataratesah disun yetat. amonia jasjasa pudhe jamaa hoto, tasatase prabhavit baal hyperamonemic komat pravesh karoo shakate, jeey majjasanstheche nuksan darshavate aanee vikasatmak vilamb, sandnyanatmak apangatva, cerebral palsie, hypertonia, spasticity, ghotyancha clonus, daure aanee yakrut nikami houu shakate.
rogache saumya prakar aanshik arginosucinate syntheteschya kamataratemule hotat aanee teey balpanat kinwa praudhavasthet prakat houu shakatat. saumya see. tii. ell. aine. 1 chya lakshananmadhye vaadh naan hone, uchch prathineyukt padarth talhane, ataxia, bighadaleli susti aanee ulatya yancha samavesh hoto. yaa lokanmadhye hyperamonemic koma ajunahi vikasit houu shakato. see. tii. ell. aine. 1 haah prasavachya kalatahi vikasit houu shakato.
anuvanshiki.
"aii. ess. 1" heey citrulinemia prakar I madhye utparivartit jhalele januk aahe. yaa janukatil utparivartananmadhye autosomal recessive mode auph inheritance asate.
rogjanan.
arginosucinate synthetage heey euria chakratil eka enzyme aahe, jeey shariratoon atirikt amonia kadhoon takte. jevha tyachi kamatarata asate, ektar purnapane kinwa anshatah, amonia vadhu shakato aanee see. tii. ell. aine. 1 chee chinhe aanee lakshane nirman karoo shakato.
nidan.
euria chakr vikaranpaiki eka mhanoon, citrulinemia prakar I haah itaranpeksha vegala karane aavashyak aaheh carbamoil phosphet syntheteschi kamatarata, argininosucinic acid layasachi kamatarata, ornithin transcarbamileschi kamatarata, aarjinejachi kamatarata aanee aine-acetylglutamate syntheschi kamatarata. see. tii. ell. aine. 1 sarkhe sarkhe itar roganmadhye sendriya aamliyata aanee citrulinemia prakar II yancha samavesh hoto. see. tii. ell. aine. 1 chey nidan karnyasathi, citrullin aanee amoniyachya patalisathi rakt chachani yogya nidan darshavu shakate; donhichi uchch patali yaa vikarache soochak aahe. navjat arbhakanchi janmachya velee see. tii. ell. aine. 1 sathee niyamitpane tapasani kelee jaate. anuvanshik chachani haah tyache nidan karnyacha ekmev nishchit marg aahe.
upchar.
see. tii. ell. aine. 1 chya mukhya upcharanmadhye amino acid purak, visheshtah arginines qamee prathine, uchch ushmankyukt aahar samavisht aahe. buffinyl aanee amonoolcha vapar karoon eucyclide protocolcha vapar upcharansathi dekhil keela jaato. hyperamonymiavar hemodialysisdware upchar kele jaatat; antahshira arginine, soodiyam benzoate aanee soodiyam fenilacetate. kahee prakarananmadhye, yakrut pratyaropan haah eka vyavharya upchar asoo shakato. ell-carnitine kahee upcharanchya niyamavalimadhye vaparale jaate.
mahamarishastra.
americetil 57,000 paiki 1 baal prabhavit aahe.

