He mate ira tino kino, he onge hoki te propionic acidemia e pā ana ki ngā pūnaha tinana maha, tae atu ki te roro me te ngākau. I te nuinga o te wā ka kitea i muri tata i te whānautanga. E pāngia ana e te 3,000 ki te 30,000 tāngata i te Hononga o Amerika.
Nā ngā hapa ira, kāore e taea e te tinana te tukatuka tika i ētahi wāhanga o ngā pūmua me ngā ngako. Ka mutu, ka puta ngā tohu o te mate. Ki te kore e tātaritatia, e rongoātia hoki i te wā tika, ka taea te arahi ki te koma, tae noa ki te mate.
E whakamārama ana tēnei tuhinga i ngā tohu o te propionic acidemia me pēhea te tautuhi i tōna mate. E matapakihia ana te maimoatanga o tēnei mate, ētahi atu take hauora e pā ana ki tēnei mate, me ngā mōhiohio whānui mō te roanga o te oranga mō te propionic acidemia.
I te nuinga o te wā, ka puta ngā tohu o te propionic acidemia i roto i ngā rā torutoru i muri i te whānautanga. Ka whānau hauora ngā pēpi engari ka tere te whakaatu i ngā tohu pēnei i te kai koretake me te ngoikore o te urupare. Ki te kore e tātaritatia, e rongoatia rānei, ka puta pea ētahi atu tohu.
Kāore i te tino kitea, ka puta tuatahi ngā tohu i te mutunga o te tamarikitanga, te taiohitanga, te pakeketanga rānei. Ka taea hoki e te propionic acidemia te arahi ki ngā raruraru mau tonu, ahakoa te wā ka tīmata.
Ko te propionic acidemia he "hapa whānau o te pākia o te tinana". He rōpū mate onge tēnei e puta mai ana i ngā momo hapa ira. Ka taea e rātou te whakararu i te pākia o te tinana, arā, te tukanga e hurihia ai ngā matūkai i roto i te kai hei pūngao.
Ka puta te pākia o te tinana mā roto i tētahi raupapa o ngā tauhohenga matū uaua, he pai te taunga, nō reira ka taea e ngā raruraru o ngā ira rerekē te whakararuraru i ngā tukanga pākia noa.
Kei roto hoki te propionic acidemia i tētahi wāhanga iti o ēnei mate e kiia nei ko te organic aciduria. Ko ēnei mate ira ka puta mai i te ngoikore o te pākia o ētahi momo waikawa amino (ngā poraka hanga o ngā pūmua) me ētahi wāhanga o te warowaihā me te ngako.
Nā reira, ka tīmata pea te piki o ngā taumata o ētahi waikawa kei roto i te tinana ki ngā taumata kino.
Ka puta ngā momo waikawa waro rerekē i ngā hapa o ngā whākōkī rerekē. Hei tauira, ko te mate tirikara māpere tētahi atu mate onge o tēnei wāhanga. I ahu mai tōna ingoa i tōna kakara motuhake.
E mōhiotia ana hoki te haunga ika ko te haunga propionic acidemia, ā, kua honoa ki tētahi o ana maimoatanga mō tōna oranga katoa.
Ko te waikawa propionic ka puta mai i te hapa o tētahi o ngā ira e rua: PCCA, PCCB rānei. Ka hangaia e ēnei ira e rua ngā wāhanga e rua o tētahi whākōkī e kiia nei ko te propionyl-CoA carboxylase (PCC). Ki te kore tēnei whākōkī, kāore e taea e te tinana te whakapūmau tika i ētahi waikawa amino me ētahi wāhanga o te ngako me te cholesterol.
Kāore anō kia kitea. Kua tautuhia kētia e ngā kairangahau ngā ira PCCA me PCCB, engari i te whanaketanga o te pūtaiao, i ako rātou ka taea e te 70 ngā whakarerekētanga ira te whai wāhi. Ka rerekē pea te maimoatanga i runga i te whakarerekētanga ira, ā, kua whakaatuhia e ētahi rangahau whakaora ira he hua pai mō ngā maimoatanga ā muri ake nei. I tēnei wā, ko te arotahi kei runga i ngā maimoatanga o nāianei mō tēnei mate.
Ko ētahi atu tohu o te propionic acidemia ko ngā raruraru ki te whakaputa pūngao nā te ngoikore o te pūnaha io.
He mate ira tuku iho te propionic acidemia. Ko te tikanga me riro i te tangata te ira e pāngia ana mai i ōna mātua kia pāngia ai e te mate.
Mena he tamaiti tā te tokorua i whānau mai me te propionic acidemia, e 25 ōrau te tūponotanga ka pāngia anō hoki te tamaiti e whai ake nei e te mate. He mea nui anō hoki kia tirohia ngā tuākana/teina o nāianei, ā, ka puta pea ngā tohu i muri mai. Mā te tātaritanga me te maimoatanga wawe ka āwhina i te ārai i ngā raruraru roa o te mate.
He tino āwhina te kōrero ki tētahi kaitohutohu ira mō ngā whānau maha. Mā tēnei ka mārama koe ki ngā mōrearea o tō āhuatanga. Tērā pea he kōwhiringa anō hoki te whakamātautau i mua i te whānautanga me te whiriwhiri i ngā kukune.
Ko te tautuhi i te propionic acidemia me whai hītori me te whakamātautau tinana hōhonu, tae atu ki ngā whakamātautau taiwhanga. He mea nui kia tautuhia wawetia te mate, nā te mea he maha ngā wā ka tino pāngia te hunga e pāngia ana e te mate.
He maha ngā momo raruraru hauora ka puta ai ngā tohu kino o te pūnaha io me ētahi atu tohu e kitea ana i roto i te propionic acidemia, tae atu ki ētahi atu mate ira onge. Me whakakore e ngā tohunga hauora ētahi atu mate pea mā te whakawhāiti i te tino take.
Tērā pea ka kitea he rerekētanga i roto i ngā whakamātautau motuhake mō te hunga whai propionic acidemia. Hei tauira, he nui ake ngā taumata o te matū e kiia nei ko te propionylcarnitine i roto i te hunga whai mate nei.
I runga i ēnei whakamātautau tuatahi, ka mahi ngā tākuta ki te whakaū i te mate. Tērā pea kei roto i tēnei ko ngā whakamātautau hei aromatawai i te pai o te mahi a te whākōkī PCC. Ka taea hoki te whakamahi i te whakamātautau ira o ngā ira PCCA me PCCB hei whakamārama i te mate.
I ētahi wā ka tātaritatia ngā pēpi i runga i ngā hua o ngā whakamātautau tirotiro pēpi hou. Heoi, kāore ngā kawanatanga katoa, ngā whenua katoa rānei o te ao e whakamātautau ana mō tēnei mate. Hei tāpiri, tera pea ka puta ngā tohu i ngā pēpi i mua i te putanga mai o ngā hua o ēnei whakamātautau tirotiro.
He mate ohorere hauora te mate whakapeka i puta mai i te propionic acidemia. Ki te kore he tautoko, ka mate pea te tangata i roto i ēnei āhuatanga. Tērā pea ka puta i mua i te tautuhi tuatahi, i ngā wā taumahatanga, i te mate rānei. Me tautoko nui ēnei tāngata i roto i te hōhipera.
He maha ngā raruraru e pā ana ki te hunga whai propionic acidemia, ā, he maha ngā wā ka pāngia rātou e ētahi atu mate hauora. Hei tauira, ko te cardiomyopathy e puta mai ana i te tamarikitanga (te pakeke toharite 7 tau) te take o te maha o ngā mate. Engari he ahurei ia kōrero. Mā te tiaki kounga, ka taea e te tini o te hunga whai propionic acidemia te ora roa ake, te ora nui ake hoki. Ka taea e tētahi rōpū tohunga mate ira onge me ngā tohunga hauora te āwhina.
He maha ngā wā ka arahi te mate pāwera o te propionic acidemia ki tētahi raruraru hauora i ngā rā tuatahi o te oranga, ā, ka tino taumaha rawa atu. Tērā pea ka roa te wā e tukatukahia ai ngā mea e tupu ana. Me tiaki tonu, engari he maha ngā tāngata e pāngia ana e te propionic acidemia ka ora tonu i ō rātou oranga katoa. Kaua e mangere ki te whakapā atu ki ngā hoa, ki te whānau, me ngā kaimahi hauora mō te tautoko.
Martin-Rivada A., Palomino Perez L., Ruiz-Sala P., Navarrete R., Cambra Conejero A., Quijada Fraile P. me etahi atu. Ko te taatai ​​​​o nga mate o te whanau whanau i roto i te whakamaaramatanga o te whanau hou i te rohe o Madrid. JIMD Report 2022 Jan 27; 63(2): 146–161. doi: 10.1002/jmd2.12265.
Forney P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionysi-Vici S, et al. Ngā aratohu mō te tātaritanga me te maimoatanga o te waikawa methylmalonic me te propionic: he arotakenga tuatahi. I riro i a J te Dis metab. Mei 2021; 44(3):566-592. doi: 10.1002/jimd.12370.
Fraser JL, Venditti CP. Waikawa Methylmalonic me te waikawa propionic: he whakahoutanga whakahaere haumanu. Whakaaro o nāianei i roto i ngā tamariki. 2016;28(6):682-693. doi:10.1097/MOP.0000000000000422
Alonso-Barroso E, Pérez B, Desviat LR, Richard E. Ngā Cardiomyocytes i ahu mai i ngā pūtau take pluripotent i whakaohokia hei tauira mō te mate propionic acidemia. Int J Mol Sci. 25 o Hānuere 2021; 22 (3): 1161. Tari Kāinga: 10.3390/ijms22031161.
Grünert SC, Müllerleile S, De Silva L, et al. Te waikawa propionic: te akoranga haumanu me ngā putanga i roto i te 55 tamariki me ngā taiohi. Orphanet J Rare Dis. 2013;8:6. doi: 10.1186/1750-1172-8-6
Kaituhi: Ruth Jessen Hickman, MD He kaituhi hauora me te rongoā motuhake a Ruth Jessen Hickman, MD, ā, he kaituhi hoki nō ngā pukapuka kua whakaputaina.