Bulwazi bwa Propionic acidemia mbulwazi butavwuli kujanika alimwi bupati bujatikizya zibeela zyamubili zinji, kubikkilizya aboongo amoyo. Chiindi chiingi chijanwa musule akuzyalwa biyo. Bulajatikizya bantu bali 3,000 kusikila ku 30,000 mu United States.
Akaambo kakulezya kwama gene, mubili tuukonzyi kubamba kabotu zibeela zimwi zya ma protein amafuta. Eezi zipa kuti kube zitondezyo zyabulwazi oobu. Kuti tiikwajanwa akusilikwa muchiindi cheelede, kulakonzya kuleta kubula maanu akufwa.
Eechi chibalo chipandulula zitondezyo zya propionic acidemia anzila yakuziba. Ilabandika busilisi bwabulwazi oobu, zimwi zilwazi zijatikizyidwe abulwazi oobu, alimwi amakani aajatikizya buumi bwamuntu uuciswa bulwazi bwa propionic acidemia.
Muziindi zyiingi, zitondezyo zya propionic acidemia zilibonya mumazuba masyoonto buyo kuzwa mwana naakazyalwa. Bana bazyalwa kabapona kabotu pesi balafwambaana kutondezya zitondezyo zilimbuli kulya kabotu akubula nguzu zyakuvwiila. Kuti tiikwajanwa akusilikwa, zimwi zitondeezyo zilakonzya kuboneka.
Muchiindi chiingi, zitondeezyo zilakonzya kuboneka kumamanino aabuvwanda, mukubusi, naakuti mukukomena. Propionic acidemia ilakonzya kuleta mapenzi aatamani, nikuba kuti italika lili.
Propionic acidemia "nkulubizya kwakuzyalwa kwamubili". Eeyi ninkamu yamalwazi aatavwuli kujanika akaambo kakulezya kwamajini. Zilakonzya kuleta mapenzi aakusanduka kwazyakulya, nzila eeyo busani buli muzyakulya mbobusanduka kuba manguzu.
Kusanduka kwazyakulya kulachitika kwiinda muzintu zikatazya kumvwisisisya alimwi zibambidwe kabotu, aboobo mapenzi aama genes manji alakonzya kuleta kunyongana kwanzila zyakusanduka kwazyakulya.
Bulwazi bwapropionic acidemia alimwi buli akati kamalwazi aaya aaitwa kuti organic aciduria. Malwazi aaya aajatikizya ma gene alaboola akaambo kakutabeleka kabotu kwamisyobo imwi yama amino acid (zintu ziyaka ma protein) alimwi azibeela zimwi zya ma carbohydrates amafuta.
Mukujana mpindu, mweelwe wama asidi amwi aajanika mumubili ulakonzya kutalika kutanta kusikila kumasena aatali kabotu.
Kulezya muma enzymes aasiyene kuletela misyobo yiindene ya organic aciduria. Mbuli chitondeezyo, bulwazi bwa maple syrup mbulwazi bumbi butavwuli kujanika mumulongo ooyu. Yakajana zina lyayo kuzwa kukununkilila kwayo.
Kununkilila kwa nswi alimwi kulizyibidwe kuti nkununkilila kwa propionic acidemia alimwi kwaswaangene amwi aabusilisi bwakwe bwabuumi boonse.
Bulwazi bwapropionic acidemia buletwa akulezya muli umwi wamajini obile: PCCA naa PCCB. Aaya ma genes obile apanga zibeela zyobile zya enzyme yiitwa kuti propionyl-CoA carboxylase (PCC). Kakwiina enzyme eeyi, mubili tuukonzyi kubamba kabotu ma amino acid amwi azibeela zimwi zya mafuta a cholesterol.
Takuna pe. Basikuvwuntauzya bakalizyi kale ma genes aa PCCA antoomwe a PCCB, asi mbuli sayensi mboyakali kuyaambele, bakaiya kuti kusika ku 70 yakucinca kwama genes kulakonzya kugwasya. Busilisi bulakonzya kuchincha kweendelanya akusanduka kwamubili, alimwi zimwi ziiyo zyakusilikwa kwamajini zyakatondezya kuti zilakonzya kugwasya kusilika kwakumbele. Kwalino, chibikkilwa maanu nchakusilisya bulwazi oobu buliwo kale.
Zimwi zitondezyo zya propionic acidemia zilakonzya kubikkilizya mapenzi aakupanga manguzu akaambo kakutabeleka kabotu kwachakulya.
Bulwazi bwa Propionic acidemia mbulwazi buzwa mumubili. Eezi zyaamba kuti muntu weelede kukona bulwazi oobu kuzwa kubazyali bakwe kuchitila kuti abe abulwazi oobu.
Kuti banabukwetene kabajisi mwana wakazyalwa abulwazi bwa propionic acidemia, kuli 25% yacoolwe chakuti mwana uutobela awalo ulaa bulwazi oobu. Alimwi nchintu chipati kulanga banabokwabo baliwo aabo bakonzya kuba azitondezyo zyakuchiswa kumbele. Kufwambaana kuzyiba bulwazi akusilikwa kulakonzya kugwasya kutabilila mapenzi aatola chiindi chilamfu.
Kwaambuula amuntu uupa lulayo kujatikizya ma gene kulakonzya kugwasya kapati kumikwasyi minji. Eezi zilakugwasya kumvwisisisya ntenda zyabukkale bwako. Kusunkwa kwamwana katanazyalwa akusala mwana uutanazyalwa akwalo kulakonzya kuba nzila zyakusala.
Kuzyibwa kwabulwazi bwa propionic acidemia kuyandika kuti muntu abe amakani aakaindi alimwi akulanga-langa mubili, alimwi akusunkwa mu laboratory. Nkukoloondo kapati kufwambaana kuzyiba bulwazi, nkaambo aabo bachiswa balachiswa loko.
Misyobo myiingi yamapenzi aabusilisi ilakonzya kuleta zitondeezyo zipati zyabongo azimwi zitondeezyo zibonwa mupropionic acidemia, kubikkilizya amalwazi aambi aatavwuli kujanika. Basyaazibwene mumulimo wabusilisi beelede kugwisya zimwi zitondezyo zyabulwazi kwiinda mukugwisya kaambo keni-keni.
Bantu bajisi bulwazi bwa propionic acidemia balakonzya kuba azintu zitali kabotu mumasunko aambi. Mbuli chitondeezyo, bantu bajisi bulwazi oobu balaa musamu wiitwa kuti propionylcarnitine uusumpukide.
Kwiinda mukulanga-langa ooku kwakusaanguna, bamadokotela babeleka kusinizya bulwazi. Eezi zilakonzya kubikkilizya akulingaula kuti PCC enzyme ibelekela kabotu biyeni. Kusunkwa kwamajini aaPCCA antoomwe amajini aaPCCB akwalo kulakonzya kubelesegwa kusalazya bulwazi.
Chimwi chiindi bana bavwanda balasaanguna kuzyibwa kuti balachiswa kweendelanya azyazwa mukulanga-langa bana bavwanda. Nokuba boobo, tazili zisi zyoonse munyika yoonse zisunkwa bulwazi oobu. Mukuyungizya, bana balakonzya kutondezya zitondezyo kakutanaba mpindu zyakupima.
Bulwazi bupati buletwa a propionic acidemia mbulwazi bwakufwambaana. Kakwiina lugwasyo, bantu balakonzya kufwa muchiindi eechi. Zilakonzya kuchitika kakutanajanwa bulwazi naakuti muchiindi chakukataazikana naakuti kuchiswa. Aaba bantu bayandika lugwasyo lupati muchibbadela.
Bantu bajisi bulwazi bwa propionic acidemia balajana mapenzi manji alimwi kanjikanji balaa zimwi zilwazi. Mbuli chitondeezyo, bulwazi bwamoyo buboola kubwana (myaka yakuzyalwa iili 7) mbobupa kuti bantu banji bafwe. Pesi makani woonse aliindene. Alubono luli kabotu, bantu biingi bachiswa bulwazi bwa propionic acidemia balakonzya kupona buumi bulamfwu. Kabunga kabasyaazibwene mumalwazi aatavwuli kujanika alimwi abasyaazibwene mubusilisi balakonzya kugwasya.
Bulwazi bwa Propionic acidemia kanjikanji buleta penzi lyabuumi mumazuba masyoonto aakusaanguna aabuumi bwalo bukonzya kulimvwa buyumuyumu. Nzila yakulanga zili mukuchitika ilakonzya kutola chiindi. Kuyandika kulanganizigwa lyoonse, asi bantu biingi bajisi bulwazi bwa propionic acidemia bazumanana kupona buumi buzulide. Kolimvwa kwaanguluka kusika kuli beenzinyokwe, mpuli, ababelesi bacibbadela kuti bakugwasye.
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Mulembi: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, mulembi uulyaandaanya zyabusilisi abuumi alimwi mulembi wamabbuku aamwaigwa.