Propionic acidemia n‘oburwaire obutarikukira kureebwa kandi obw‘amaani obw‘obuzaarwa oburikuteganisa ebicweka by‘omubiri bingi, otwariiremu obwongo n‘omutima. Obwire obwingi nikizoorwaho bwanyima y’okuzaarwa. Nikikwata abantu 3,000 kuhika 30,000 omuri Amerika.
Ahabw’oburemeezi bw’obuzaarwa, omubiri tigurikubaasa kukora gye ebicweka ebimwe eby’ebiriisa n’ebishaju. Eki nikihendera kireetsireho obumanyiso bw‘embeera egi. Ku oraabe otakyebeirwe kandi akajanjabwa omu bwire, nikibaasa kumureetera okugwa omu kigwererezi nangwa n‘okufa.
Ekicweka eki nikishoboorora obumanyiso bw‘oburwaire bwa propionic acidemia n‘oku orikubaasa kubukyebera. Nikigamba aha kujanjaba embeera egi, enshonga ezindi z‘obushaho eziine akakwate nayo, n‘amakuru g‘omutaano agarikukwata aha myaka y‘amagara g‘omuntu ahabw‘endwara ya propionic acidemia.
Obwire obwingi, obumanyiso bwa propionic acidemia nibureebeka omu biro bikye bwanyima y‘okuzaarwa. Abaana abato nibazaarwa baine amagara marungi kwonka omu bwire bukye nibooreka obumanyiso nk‘okurya kubi n‘okukyendeera omu kugarukamu. Ku kiraabe kitakyeberwa kandi kitajanjabirwe, obundi bumanyiso nibubaasa kubaho.
Omu muringo ogutarikukira kubaho, obumanyiso nibubaasa kubanza kureebeka omu myaka y‘obuto, omu myaka y‘obukuru, nari omu myaka y‘obukuru. Propionic acidemia nayo neebaasa kureetera oburemeezi obutarikukira, n‘obu yaakuba neetandika ryari.
Propionic acidemia ni “enshobi y‘okuzaarwa omu kuhindura eby‘okurya”. Eki n’ekibiina ky’endwara ezitarikukira kureebwa ezirikureetwaho oburemeezi bw’obuzaarwa obutari bumwe na bumwe. Nibibaasa kureetera oburemeezi omu kuhindura eby‘okurya, omuringo ogu ebiriisa ebiri omu by‘okurya birikuhindurwamu amaani.
Okuhindura eby’okurya omu mubiri nikubaho kurabira omu nkora z’eby’obuhangwa ezigumire kandi ezitebeekanisiibwe gye, n’ahabw’ekyo oburemeezi n’ebicweka by’omubiri bingi ebitarikushushana nibibaasa kureetera okutabura okumwe omu nkora z’okuhindura eby’okurya omu mubiri.
Propionic acidemia nayo neeruga omu kicweka ky‘oburemeezi obu ekirikwetwa asidi y‘omubiri. Oburemeezi obu obw‘obuzaarwa niburuga omu kuremeera kw‘okuhindura eby‘okurya omu miringo emwe y‘ebiriisa (ebirikwombeka puroteyini) n‘ebicweka ebimwe eby‘ebiriisa n‘ebishaju.
Eki nikirugamu, asidi ezimwe ezirikuba ziri omu mubiri omu butoosha nizibaasa kutandika kutunguuka zihika aha rurengo orutari rw‘amagara.
Oburemeezi omu nkora zitari zimwe na zimwe nibureetaho emiringo etari emwe n‘emwe y‘okugira asidi y‘ebihangwa. Nk’eky’okureeberaho, endwara ya maple syrup n’endwara endiijo etarikukira kureebwa omu kicweka eki. Eiziina eri rikatunga ahabw’okunuuka kwakyo okurikumanyisa.
Ekinuuko ky’eby’enyanja nikimanyirwa aha kunuuka kwa propionic acidemia kandi kiine akakwate n’omwe aha bujanjabi bwe obw’amagara ge goona.
Propionic acidemia neereetwa oburemeezi omu kimwe aha bihingwa bibiri: PCCA nari PCCB. Obutafaari obu bwombi nibukora ebicweka bibiri eby’omubiri ebirikwetwa propionyl-CoA carboxylase (PCC). Omubiri gwaba gutarimu enzyme egi, tigurikubaasa kuhindura gye amino acids ezimwe n’ebicweka ebimwe eby’ebishaju na cholesterol.
Tikikabaire. Abacondooza bakaba baherize kumanya ebiri omu nkora ya PCCA na PCCB, kwonka sayansi ku yaagumire neetunguuka, bakamanya ngu okuhinduka kw’ebiri omu nkora okurikuhika 70 nikubaasa kukora kihango. Obujanjabi nibubaasa kuhinduka kurugiirira aha kuhinduka kw’omubiri, kandi okucondooza okumwe okwakozirwe aha by’obuzaarwa bw’omubiri kworekire ngu nihaija kubaho ebirungi omu kujanjaba omu biro by’omumaisho. Obwahati, ekigyendererwa kiri aha bujanjabi oburiho obw’endwara egi.
Obundi bumanyiso bwa propionic acidemia nibubaasa kubamu oburemeezi omu kureetaho amaani ahabw‘okuremwa kukora gye kw‘omubiri.
Propionic acidemia n‘endwara y‘obuzaarwa erikuruga omu nkora y‘obuzaarwa. Eki nikimanyisa ngu omuntu aine kuhungura akazaano akaine oburwaire obu kuruga omu bazaire be kubaasa kutunga endwara egi.
Abashwereine baaba baine omwana owaazairwe aine oburwaire bwa propionic acidemia, hariho omugisha gwa 25 ahari igana ngu omwana orikukurataho nawe naija kutunga oburwaire obu. Ni kikuru n‘okureeba abanyabuzaare abariho abarikubaasa kugira obumanyiso bwanyima. Okukyebera n‘okujanjaba juba nikibaasa kuhwera okuzibira oburemeezi bw‘obwire buraingwa obw‘endwara.
Okugamba n’omuhabuzi w’eby’obuzaarwa nikibaasa kuhwera munonga amaka maingi. Eki nikiija kukuhwera kwetegyereza akabi akari omu mbeera yaawe. Okukyebera omwana atakazairwe n’okutoorana obutafaari nabyo nibibaasa kuba eby’okutooranamu.
Okukyebera oburwaire bwa propionic acidemia nikyetengyesa ebyafaayo by‘omuntu n‘okukyeberwa omubiri, hamwe n‘okukyeberwa omu laboratory. Ni kikuru kukyebera ahonaaho nk‘oku kirikubaasika, ahabw‘okuba abo abarikukwatwaho nibakira kurwara munonga.
Emiringo mingi y‘ebizibu by‘obushaho etari emwe n‘emwe neebaasa kureetera obumanyiso bw‘amaani obw‘ebihaha n‘obundi bumanyiso oburikureebeka omu propionic acidemia, obariiremu obundi buremeezi obutarikukira kureebwa obw‘obuzaarwa. Abakugu omu by‘amagara bashemerire kwihaho ebindi ebirikubaasa kukyeberwa barikukyendeeza aha kirikureetaho.
Abantu abaine oburwaire bwa propionic acidemia nabo nibabaasa kugira obuzibu aha kukyeberwa kw‘omutaano. Nk’eky’okureeberaho, abantu abaine oburwaire obu baine ekintu ekirikwetwa propionylcarnitine ekirikukirayo.
Okurugiirira aha kukyeberwa oku okurikubanza, abashaho nibakora kuhamya ngu omuntu aine oburwaire obu. Eki nikibaasa kutwariramu okukyebera oku enzyme ya PCC erikukora gye. Okukyebera obuzaarwa bw‘obuzaarwa bwa PCCA na PCCB nakyo nikibaasa kukoresibwa kushoboorora okukyeberwa.
Obumwe abaana abato nibabanza kukyeberwa kurugiirira aha byarugamu omu kukyebera abaana abaherize kuzaarwa okuri omu murembe. Kwonka ti mahanga goona nari amahanga goona omunsi yoona ngu nigakyeberwa endwara egi yonka. Okwongyera ahari ekyo, abaana abato nibabaasa kworeka obumanyiso bw‘endwara egi ebyarugamu omu kukyebera oku bitakahikire.
Endwara y‘amaani erikureetwaho propionic acidemia n‘eky‘ahonaaho omu by‘obujanjabi. Abantu baaba bataine bushagiki, nibabaasa kufa omu bwire bw’ebintu ebi. Nibibaasa kubaho omuntu atakatandikire kukyeberwa nari omu bwire bw‘okushoberwa nari endwara. Abantu aba nibetenga obushagiki bw‘amaani omu mwanya gw‘eirwariro.
Abantu abaine oburwaire bwa propionic acidemia nibatunga oburemeezi bwingi kandi nibakira kugira oburwaire obundi. Nk‘eky‘okureeberaho, oburwaire bw‘omutima oburikubaho omu buto (emyaka 7 y‘ahaiguru) nibwo burikureetaho okufa kw‘abantu baingi. Kwonka buri kitebyo n’eky’omutaano. Haaba hariho obureeberezi bw‘omutindo, abantu baingi abaine oburwaire bwa propionic acidemia nibabaasa kuhangaara omu bwijwire kandi kumara obwire buraingwa. Ekibiina ky‘abakugu omu ndwara z‘obuzaarwa ezitarikukira kureebwa n‘abakugu omu by‘amagara nibabaasa kuhwera.
Propionic acidemia neekira kureetera oburemeezi bw‘amagara omu biro bikye by‘okubanza by‘amagara ebirikubaasa kuhurira biri bingi. Omuringo gw‘okukora aha biriyo nibibaho nigubaasa kutwara obwire. Nikyetengyesa okureebererwa obwire bwona, kwonka abantu baingi abaine oburwaire bwa propionic acidemia nibagumizamu nibatuura amagara gaijwire. Hurira oine obugabe kuhika ahari banywani baawe, ab‘eka yaawe, n‘abakozi b‘eby‘amagara kutunga obushagiki.
Omuringo ogu, n’abandi. Okukyebera oburemeezi bw‘okuzaarwa omu kukyebera abaana abato okugaziibwe omu kicweka kya Madrid. Ripoota ya JIMD 2022 Okwamwenda 27; 63(2): 146-161. 10.1002/12265.
Forney P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionysi-Vici S, n’abandi. Endagiiriro z‘okukyebera n‘okujanjaba oburwaire bwa methylmalonic na propionic acidemia: okugarukamu kw‘okubanza. J akahungura ekirungo kya Dis metab. Okwakataano 2021; 44(3): 566-592. 10.1002/12370.
Omunyabwengye JL, omunyabwengye CP. Asidi ya methylmalonic na asidi ya propionic: okutunguuka omu nkora y‘obujanjabi. Enteekateeka eriho hati omu by’obujanjabi bw’abaana. 2016;28(6):682-693. 10.1097/MOP
Alonso-Barroso E, Pérez B, Desviat LR, Richard E. Obutafaari bw‘omutima oburikuruga omu butafaari bw‘omubiri oburikureetaho obutafaari bw‘omubiri nk‘eky‘okureeberaho ky‘endwara ya propionic acidemia. Int J eby’obuhangwa. 2021 Okwamwenda ebiro 25; 22 (3): 1161. Ofiisi y’omu ka: 10.3390.
Omuntu orikwetwa Grünert SC, Mullerleile S, De Silva L, n’abandi. Propionic acidemia: enkora y‘obujanjabi n‘ebirugiremu omu baana 55 n‘abakaikuru/abagurusi. Empumi J Rare Dis. 2013;8:6. doi: 10.1186/1750-1172-8-6.
Omuhandiiki: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, n’omuhandiiki w’eby’obujanjabi n’eby’amagara orikwekorera kandi omuhandiiki w’ebitabo ebihandiikirwe.