I-Propionic acidemia sisifo esingaqhelekanga nesinzima semfuza esichaphazela iinkqubo ezininzi zomzimba, kuquka ingqondo nentliziyo. Idla ngokufunyanwa emva nje kokuzalwa. Ichaphazela abantu abayi-3,000 ukuya kuma-30,000 eMelika.
Ngenxa yeziphene zemfuza, umzimba awukwazi ukucubungula kakuhle iinxalenye ezithile zeeproteni kunye namafutha. Oku ekugqibeleni kukhokelela kwiimpawu zesifo. Ukuba asifunyanwanga kwaye asinyangwa ngexesha, sinokukhokelela kwi-coma kwanokufa.
Eli nqaku lichaza iimpawu ze-propionic acidemia kunye nendlela yokuyixilonga. Lixoxa ngonyango lwale meko, ezinye iingxaki zonyango ezinxulumene nayo, kunye nolwazi ngokubanzi malunga nobude bobomi be-propionic acidemia.
Kwiimeko ezininzi, iimpawu ze-propionic acidemia zibonakala kwiintsuku ezimbalwa emva kokuzalwa. Iintsana zizalwa ziphilile kodwa kungekudala zibonisa iimpawu ezifana nokungondleki kakuhle kunye nokusabela okuncinci. Ukuba ayifunyaniswanga kwaye ayinyangwa, ezinye iimpawu zinokuvela.
Iimpawu aziqhelekanga kangako, zinokuqala ukubonakala xa umntwana ekhula, ekwishumi elivisayo, okanye ebudaleni. I-Propionic acidemia inokukhokelela kwiingxaki ezingapheliyo, nokuba iqala nini.
I-Propionic acidemia "yimpazamo yokuzalwa yemetabolism". Eli liqela lezifo ezingaqhelekanga ezibangelwa ziziphene ezahlukeneyo zemfuza. Zinokubangela iingxaki ngemetabolism, inkqubo apho izondlo ekutyeni ziguqulwa zibe ngamandla.
I-metabolism yenzeka ngothotho lweempendulo zeekhemikhali ezintsonkothileyo nezilungelelanisiweyo kakuhle, ngoko ke iingxaki ngeejini ezininzi ezahlukeneyo zinokukhokelela ekuphazamisekeni kweenkqubo eziqhelekileyo ze-metabolism.
I-Propionic acidemia ikwayinxalenye yezinye zezi zifo ezibizwa ngokuba yi-organic aciduria. Ezi zifo zemfuza zibangelwa kukungasebenzi kakuhle kwemetabolism yeentlobo ezithile zee-amino acids (izakhiwo zeeproteni) kunye neenxalenye ezithile ze-carbohydrates kunye namafutha.
Ngenxa yoko, amanqanaba ee-asidi ezithile ezihlala zikhona emzimbeni angaqala ukunyuka aye kumanqanaba angengowasempilweni.
Iziphene kwii-enzymes ezahlukeneyo zibangela iintlobo ezahlukeneyo ze-organic aciduria. Umzekelo, isifo se-maple syrup sesinye isifo esingaqhelekanga kolu didi. Sifumene igama laso ngenxa yevumba laso elikhethekileyo.
Ivumba leentlanzi likwaziwa ngokuba livumba le-propionic acidemia kwaye linxulunyaniswe nolunye lweendlela zakhe zonyango zobomi bonke.
I-Propionic acidemia ibangelwa sisiphene kwenye yezakhi zofuzo ezimbini: i-PCCA okanye i-PCCB. Ezi zakhi zofuzo zimbini zenza izakhi zofuzo ezimbini ze-enzyme ebizwa ngokuba yi-propionyl-CoA carboxylase (PCC). Ngaphandle kwale enzyme, umzimba awunakuyicola ngokufanelekileyo i-amino acids ezithile kunye nezakhi zofuzo kunye ne-cholesterol.
Akukabikho. Abaphandi sele beyichongile i-PCCA kunye ne-PCCB genes, kodwa njengoko isayensi iqhubeka, bafunde ukuba ukuya kuthi ga kwi-70 genetic mutations zinokudlala indima. Unyango lunokwahluka ngokuxhomekeke kuguquko, kwaye ezinye izifundo zonyango lwe-gene zibonise iziphumo ezithembisayo zonyango lwexesha elizayo. Okwangoku, ingqwalasela ikwiindlela ezikhoyo zonyango lwesi sifo.
Ezinye iimpawu ze-propionic acidemia zinokubandakanya iingxaki zokuveliswa kwamandla ngenxa yokungasebenzi kakuhle kwe-metabolic.
I-Propionic acidemia sisifo se-autosomal recessive genetic disease. Oku kuthetha ukuba umntu kufuneka azuze ilifa le-gene echaphazelekayo kubazali bakhe ukuze akwazi ukuphuhlisa esi sifo.
Ukuba isibini sinomntwana ozelwe ene-propionic acidemia, kukho amathuba angama-25 ekhulwini okuba umntwana olandelayo naye abe nesi sifo. Kubalulekile nokujonga abantakwabo abakhoyo abanokuba neempawu kamva. Ukuxilongwa kwangoko kunye nonyango kunokunceda ukuthintela iingxaki zesifo ezihlala ixesha elide.
Ukuthetha nomcebisi wezemfuza kunokuba luncedo kakhulu kwiintsapho ezininzi. Oku kuya kukuvumela ukuba uqonde iingozi zemeko yakho. Uvavanyo lwangaphambi kokuzalwa kunye nokukhetha umbungu nazo zinokuba zezinye iindlela.
Ukuchongwa kwe-propionic acidemia kufuna imbali enzulu kunye novavanyo lomzimba, kunye novavanyo lwelebhu. Kubalulekile ukwenza uxilongo ngokukhawuleza, njengoko abo bachaphazelekileyo bedla ngokugula kakhulu.
Iintlobo ngeentlobo zeengxaki zonyango zinokubangela iimpawu ezinzima ze-neurological kunye nezinye iimpawu ezibonakala kwi-propionic acidemia, kuquka nezinye izifo ezingaqhelekanga ze-genetic. Iingcali zonyango kufuneka zikhuphe ezinye izifo ezinokubakho ngokunciphisa unobangela othile.
Abantu abane-propionic acidemia banokuba neengxaki xa bevavanywa ngendlela ekhethekileyo. Umzekelo, abantu abanale ngxaki banamanqanaba aphezulu ento ebizwa ngokuba yi-propionylcarnitine.
Ngokusekelwe kwezi mvavanyo zokuqala, oogqirha basebenza ukuqinisekisa ukuxilongwa. Oku kungabandakanya iimvavanyo zokuvavanya indlela esebenza kakuhle ngayo i-enzyme ye-PCC. Uvavanyo lwe-genetic lwe-PCCA kunye ne-PCCB genes lunokusetyenziswa ukucacisa ukuxilongwa.
Ngamanye amaxesha iintsana ziqala zifunyaniswe zizifo ngokusekelwe kwiziphumo zovavanyo oluqhelekileyo lokuhlolwa kweentsana ezisandul’ ukuzalwa. Nangona kunjalo, ayizizo zonke iiphondo okanye amazwe kwihlabathi liphela avavanya esi sifo. Ukongeza, iintsana zinokubonisa iimpawu ngaphambi kokuba zifumaneke iziphumo zovavanyo lokuhlolwa.
Ukugula okubangelwa yi-propionic acidemia yimeko engxamisekileyo yezonyango. Ngaphandle kwenkxaso, abantu banokufa ngexesha lezi ziganeko. Zinokwenzeka ngaphambi kokuba kuxilongwe okokuqala okanye ngamaxesha oxinzelelo okanye ukugula. Aba bantu bafuna inkxaso enzulu esibhedlele.
Abantu abane-propionic acidemia bajongene neengxaki ezininzi kwaye badla ngokuba nezinye izifo. Umzekelo, i-cardiomyopathy ekhula ebuntwaneni (ubudala obuphakathi kweminyaka esi-7) yimbangela yokufa kwabantu abaninzi. Kodwa ibali ngalinye lihlukile. Ngokhathalelo olusemgangathweni, abantu abaninzi abane-propionic acidemia banokuphila ubomi obupheleleyo nobude. Iqela leengcali zezifo zemfuza ezingaqhelekanga kunye neengcali zempilo zinokunceda.
I-propionic acidemia idla ngokukhokelela kwingxaki yempilo kwiintsuku zokuqala zobomi enokuthi ivakale inzima. Inkqubo yokucubungula okwenzekayo ingathatha ixesha. Ifuna ukhathalelo oluqhubekayo, kodwa abantu abaninzi abane-propionic acidemia baqhubeka nokuphila ubomi obupheleleyo. Zive ukhululekile ukufikelela kubahlobo, usapho, kunye nabasebenzi bezonyango ukuze ufumane inkxaso.
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Umbhali: Ruth Jessen Hickman, MD URuth Jessen Hickman, MD, ngumbhali wezonyango nempilo ozimeleyo kunye nombhali weencwadi ezipapashiweyo.