Ulwabiwo lweMetabolic Disorder
Isifo sikaLeigh sisifo esiyifumene esiyifumene esonakalisa i-nervous system system (ubuchopho, intambo yomgogodla kunye neentsholongwane ze-optic). Isifo sikaLeigh sibangelwa iingxaki kwi-mitochondria, amaziko emandla kwiiseli zomzimba.
Ingxaki yesifo esibangela ukuba isifo sikaLeigh sinokuzuzwa ngeendlela ezintathu. Ingaba ilifa kwi- X (insikazi) i-chromosome njenge-deficiency of genetic enzyme ebizwa ngokuba yi-pyruvate dehydrogenase complex (PDH-Elx).
Ingathatha ilifa njenge- autosomal condition excessively affecting the assembly of enzyme ebizwa ngokuthi i-cytochrome-c-oxidase (COX). Inokuthi izuze njengefa lokutshintshwa kwe-DNA kwi-cell mitochondria.
Iimpawu
Iimpawu zesifo sikaLeigh zivame ukuqala phakathi kweminyaka eyi-3 kunye neminyaka emi-2. Ekubeni isifo sichaphazela inkqubo ye-nervous central, iimpawu zingabandakanya:
- ubuchule obusweleyo obusweleyo
- ubunzima obambe intloko
- ukulahlekelwa yizakhono zamantombazana ezinjengokubamba iqhosha kunye nokugubha
- ukulahleka kwesidlo
- ukuhlanza
- ukucaphuka
- ukukhala okuqhubekayo
- ukuxhamla
Njengoko isifo sikaLeigh siba sibi ngakumbi ngexesha, iimpawu zingabandakanya:
- buthathaka
- Ukungabikho kwetoni ye-muscle (hypotonia)
- iziqwenga ze-lactic acidosis (ukuqokelela i-lactic acid emzimbeni nasengqondweni) ezingaphazamisa ukuphefumla kunye neentsholongwane
- iingxaki zentliziyo
Ukuxilongwa
Ukuxilongwa kwesifo sikaLeigh kusekelwe kwiimpawu zintsana okanye umntwana.
Iimvavanyo zingabonisa ukusilela kwe-pyruvate dehydrogenase okanye ubukho be-lactic acidosis. Abantu abanesifo sikaLeigh bangaba nemigqomo ehambelana nomonakalo kwingqondo engase ifunyanwe ngophando lobuchopho. Kwamanye abantu, ukuhlolwa kofuzo kunokwazi ukuchonga ubukho bokuguquka komzimba.
Unyango
Ukunyangwa kwesifo sikaLeigh kubandakanya iivithamini ezifana ne-thiamine (i-vitamin B1). Ezinye iindlela zonyango zingagxininisa kwiimpawu ezikhoyo, ezifana nezidakamizwa zokulwa neentambo okanye intliziyo okanye amayeza ezintso. Ulwaphulo olusisigxina, usebenze, nolululwazi lunokunceda umntwana afikelele ekuphuculeni kwakhe.
Imithombo:
> "I-NINDS Leigh's Disease Information Information Page." Ngxaki. 13 uFebruwari 2007. Umbutho weSizwe weeNational and Disorders and Stroke.
> "Izifo zeLeigh." Index of the Rare Diseases. 17 Disemba 2007. Umbutho weSizwe weengxaki eziqhelekileyo.
> Macnair, Trisha. Izifo zeLeigh. BBC yezempilo. Julayi 2006.