Say propionic acidemia et matalag tan seryoson sakit ed genes ya mangaapekta ed nanduruman sistema na laman, kaiba lay utek tan puso. Maslak et nadiskobre itan kayari na inkianak. Apektado iya ed 3,000 anggad 30,000 a totoo ed Estados Unidos.
Lapud depekto ed genes, ag naproseso na laman so pigaran parte na protina tan taba. Diad kaunoran et saya so mangitonton ed saray sintomas na kondisyon. No ag-itan naimano tan natambal ed dugan panaon, nayarin pansengegan itan na coma tan ipapatey ni ingen.
Ipaliwawa na sayan artikulo iray sintomas na propionic acidemia tan no panon itan ya naamtaan. Pantongtongan na saya so panagtambal ed sayan kondisyon, arum niran medikal ya isyu ya misiglaotan ed saya, tan say inkalapagan ya impormasyon nipaakar ed karukey na bilay parad propionic acidemia.
Diad maslak a kaso, saray sintomas na propionic acidemia et ompatnag ed loob na pigaran agew kayari na inkianak. Saray ugugaw et nianak ya mabunigas balet ta agmanbayag et walay sintomas da a singa say makapuy ya nutrisyon tan ag-onkiwas. No ag-itan naimano tan natambal, nayarin onlesa so arum nin sintomas.
Diad agtanton kaslakan, saray sintomas et nayarin unonan ompatnag ed bandad sampot na inkaugaw, inkatobonbalo, odino inkatatken. Say propionic acidemia et nayarin pansengegan met na mas dakel ya problema, anggan kapigan itan onggapo.
Say propionic acidemia et sakey a “congenital error of metabolism”. Saya so grupo na matalag iran sakit ya sengegan na nanduruman depekto ed genes. Nayarin pansengegan iratan na problema ed metabolismo, say proseso no panon ya say sustansya ed kakanen et magmaliw ya enerhiya.
Say metabolismo et nagagawa panamegley na nantutumbokan ya komplikado tan maong ya inka-koordinado na kemikal iran reaksion, kanian saray problema ed nanduruman genes et nayarin pansengegan na pigaran pakadisturbo na normal iran proseso na metabolismo.
Say propionic acidemia et kabiangan met na sarayan sakit ya tatawagen ya organic aciduria. Sarayan sakit ed genes et resulta na ag-inkayadyari na metabolismo na pigaran klase na amino acid (saray bloke na protina) tan pigaran kabiangan na carbohydrates tan taba.
Lapud saya, say karakel na pigaran asido ya walad laman et nayarin onggapon ontagey ed agmakagunggona iran karakel.
Saray depekto ed nanduruman enzyme so pansengegan na nanduruman klase na organic aciduria. Singa bilang, say maple syrup disease et sananey nin matalag a sakit ed sayan kategorya. Naala so ngaran to lapud angob to.
Say angob na sira et tatawagen met ya propionic acidemia odor tan nisiglaot ed sakey ed saray panagtambal to ed interon bilay to.
Say propionic acidemia et lapud depekto ed sakey ed duaran genes: PCCA o PCCB. Sarayan duaran gene et manporma na duaran kabiangan na enzyme ya tatawagen ya propionyl-CoA carboxylase (PCC). No anggapoy sayan enzyme, ag na-metabolize na laman so pigaran amino acid tan pigaran kabiangan na taba tan kolesterol.
Agni. Naamtaan la na saray researcher so PCCA tan PCCB genes, balet legan ya onaaligwas so siensia, naaralan da ya anggad 70 ya genetic mutations so nayarin walay papel da. Say panagtambal et nayarin manduruma depende ed mutation, tan wala ray impanaral ed gene therapy ya angipatnag na maabig iran resulta parad arapen iran therapy. Diad kaplesan, say pokus et saray wala lan panagtambal parad sayan sakit.
Saray arum ya sintomas na propionic acidemia et nayarin kaiba iray problema ed produksyon na enerhiya lapud metabolic dysfunction.
Say propionic acidemia et sakey ya autosomal recessive genetic disease. Kabaliksan na saya ya kaukolan ya natawir na sakey a too so apektadon gene manlapud atateng to pian nawalaan na sakit.
No say sanasawa et walay anak dan nianak ya walay propionic acidemia, walay 25 porsiento ya tsansan say onsublay ya anak da et nawalaan met na ontan ya sakit. Importante met ya nengnengen iray wala lan sanaagi ya nayarin nawalaan na sintomas diad saginonor. Say masakbay a pakasukimat tan panagtambal et makatulong pian naprebentaan so andukey a komplikasyon na sakit.
Makatulong a maong ed dakel a pamilya so pitongtong ed genetic counselor. Saya so mamaabuloy ed sika a natalosan iray peligro na situasyon mo. Nayarin opsyon met so prenatal testing tan say pampili na embryo.
Say pakaamta ed propionic acidemia et mankaukolan na sigpot ya history tan pisikal ya eksaminasyon, ontan met ed saray laboratory test. Importante so panggawa na diagnosis ed sankasakbayan a panaon, ta saray apektado et mabetbet ya mansasakit a maong.
Dakel a klase na problema ed laman so nayarin pansengegan na graben sintomas na neurological tan arum niran sintomas ya nanengneng ed propionic acidemia, kaiba lay arum niran matalag a sakit ed genes. Nepeg ya ipulisay na saray propesyonal ed healthcare so arum nin posiblin diagnosis diad pangipaabeba ed espisipikon sengegan.
Saray totoon walay propionic acidemia et nayarin walaan met na abnormalidad ed mas espisyal iran test. Singa bilang, saray totoon walaan na sayan sakit et walaan na atagey a lebel na sakey a substansia ya tatawagen ya propionylcarnitine.
Base ed sarayan inmunan test, saray doktor et mansasagpot pian nakumpirma so diagnosis. Nayarin kaiba ed saya iray test pian naamtaan no panon ka-epektibo so PCC enzyme. Say genetic testing na PCCA tan PCCB genes et nayarin usaren met pian napalinew so diagnosis.
No maminsan et saray ugugaw so unonan na-diagnose base ed resulta na estandarten screening test ed kapangiyanak. Balet, aliwan amin ya estado o bansa ed interon mundo et mansusubok ed sayan sakit. Niarum ni, saray ugugaw et nayarin mangipatnag na sintomas antis ya naala so resulta na sarayan screening test.
Say graben sakit ya sengegan na propionic acidemia et sakey ya medikal ya emerhensya. No anggapoy suporta, nayarin ompatey iray totoo legan na sarayan ebento. Nayarin nagawa iratan antis na inmunan diagnosis odino legan na panaon na stress odino sakit. Sarayan totoo et mankaukolan na mabiskeg a suporta ed ospital.
Saray totoon walay propionic acidemia et dakel so problema da tan mabetbet ya wala ray arum ya sakit da. Singa bilang, say cardiomyopathy ya onlelesa ed inkaugaw (7 taon ed edad) so sengegan na dakel ya ipapatey. Balet kada istorya et nikadkaduma. No de-kalidad so panangasikaso, dakel a totoon walay propionic acidemia so makapambilay na mas napno tan andukey. Makatulong so sakey a grupo na saray espesyalista ed matalag a sakit tan saray propesyonal ed healthcare.
Say propionic acidemia et mabetbet ya pansengegan na krisis ed bunigas diad inmunan pigaran agew na bilay ya nayarin makapaermen. Say proseso na panagproseso ed nagagawa et nayarin mangala na pigaran panaon. Kaukolan so pirmin panangasikaso, balet dakel a totoon walay propionic acidemia so manbilay na napno. Agkayo mapaga ya onkerew na suporta ed saray kakaaro, kapamilya, tan medikal ya staff.
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Author: Ruth Jessen Hickman, MD Si Ruth Jessen Hickman, MD, et sakey a freelance ya managsulat ed medisina tan bunigas tan managsulat na saray nipalapag a libro.