Maple malakeke mimi maʻi: he pohihihi keia maʻi e hiki aku ai i ka loa neurological kāna hana

Maʻi maple malakeke - mea he aaiaoe kāna hana i pili me ka metabolic kāna hana o'amino nāʻakika e like me leucine, isoleucine a me ka valine. Lākou lehulehu i loko o ka fluids o ke kanaka kino, piʻi pū, e kauoha ana kaʻapu kōheoheo, ketoacidosis, convulsions a hiki coma.

moʻolelo

No ka mea manawa mua i loko o ka 'inikua moʻokalaleo maple malakeke maʻi i loko o nā mākua mea i ho'ākāka' ia i loko o ka makahiki 1954 ma ke kauka Menkes. Ua loaa ae nei i ka inoa no o ka hoailonaʻala o ka mimi i loko o nā mea maʻi. nana e like ia noiʻi mohaikuni kō a me ka laau me ka malakeke. Kekahi, oi scientific inoa - he maʻi o ka manamana ai nāʻakika.

Ua lŘlŘ e pili ana i kekahi manawa, kēlā mea kēia mea haneri a me kanalima tausani nā pēpē i, no ka mea, ke 'ano o ka'āina hoʻoili o keia'ōewe - autosomal recessive. Dala i loaa mai maʻi paʻakikī a me ka pinepine Nā hualoaʻa ma ka make i loko o kamaliʻi.

etiology

No ka hooulu ana o ka maʻi nā mākua pono e nā moku halihali mokulele o ka hemahema'ōewe no ka hana dehydrogenase Alpha keto nāʻakika o ka manamana ai-kaula. Ma ke ano maoli, keia'ūhū mea i loko o kumuʻiʻo-waiwaiʻai e like me he hua paha, ka waiu, me ka waiū, ai, nā manuʻaiʻia a me na mea e ae. A keiki e hoʻomōhala ana i ke aloha atsidemiya, i mea loa pilikia no ka mea ua'emi ko kahua.

Maple malakeke mimi maʻi mea oi, he pono ole i ka poe Iudaio, Amish, Mennonites. O ke kumu ho i ka mea i ka mea, e noho ana ma ka paʻa nohona pūʻulu, a me ka mare i loa paha, e ana ma waena o loa distantly nā, a 'o ia hoʻi i ka pahiki o ke alo o na makua o ka mutated'ōewe kuleana no ka wehe aʻe o ka'amino nāʻakika, piʻi pū me ka nui loa.

symptoms

Ma ka hebedoma lua ma hope o ka hānau hiki reliably huai ae i kekahi maʻi maple malakeke. Symptoms i ole-kahiko keiki ka hana: ka mea, ua mau hea malie,ʻaʻole eʻai ana, a me ka pinepine luaʻi profusely, ka luaʻi e hiki ana. Me ka Holomua o intoxication ikea convulsions, Muscle leo maoli. Keia ua hoikeia i loko o ke kino o ka keiki ka ua hukiʻia, e like me ka mea e noho ana, "manamananui o ka laina", a me kela aoao mau wāwae ma nā puʻupuʻu wāwae. A hiki i ka hooulu ana o opisthotonos.

Inā makua hoʻomau e kāpae'ōlelo i ka maʻi, a mai kapa aku i ke kauka, ka mea e hiki mai ana ke kahua o ka maʻi - he 'aʻe' o ka hanu a me ka ike paka i. Children lilo sluggish, nele o ka Initiative, hāʻule i loko o ka, nanea ana, a laila, coma. Neurological kāna hana, a me ka maikaʻi hoʻokūkū koe no ke ola. Keia uku i i ole manaʻoi hoʻokoe 'diagnosed maʻi maple malakeke. Hoʻomanawanui iki mai Photos loaa ole ia, a me ia ka loa kaumaha, ka hapanui o ia mau keiki depicted.

ʻike, ua nānā 'ana ma luna o ka Ikepili o ke alo i loko o ka mimi o ole-kaʻawaʻawaʻana'amino nāʻakika, e like me ia ma ka lapaʻau hoikeana.

Mea Maluna

Ke kaumaha ma muli o ka nui o symptoms a me ka degere o ka inertness dehydrogenase i kekahi mau ano o ka maʻi.

1. Panina. Ma hope iho o ka hanau ana o apparently olakino keiki, e kekahi mau lā, i nā symptoms hoʻomaka i ka hōʻike. First o ka nele o ka ikaika loa ka makemake a me ka rejection o ka umauma, a laila, ke kaupaonaʻana lilo, manawa o ka apnea. A laila, hookahi clonuses, a laila, clonic-tonic convulsions. Ua welau a me ka coma. 'ūhū ha awina - emi malalo o elua pakeneka.
2. Papa'āweʻaweʻa kemika. Ka maʻi Aʻole i hoike ia mai i ka eono mahina, a hiki mai ai i nā makahiki o ke ola. Ke kāheaʻano papa hana ua hoolilo mea koʻohune paha mea hoʻomaʻi maʻiʻaʻai, vaccination paha he excessive ulu i loko o ka nui o ke kumuʻiʻo i loko o kaʻai. Symptoms hoʻomōhala incrementally. 'ūhū ha awina - mai ka iwakalua pakeneka.
3. Tiaminzavisimaya. I kona lapaʻau hoike ana i 'ano like me ka mua ano. Ke nui koena unuhi mea i hoʻohana 'ia i loko o ka iapaau ana o ka wikamina B1, a me ka nui loa ho'ēmi i kā ka lehulehu o'amino nāʻakika ma ka mimi a me ke koko.

lapaʻau

No ka mea, he kanaka ua hoʻokomo i ka haukapila i loko o ka moku'āina o loa kaʻapu kōheoheo, laila olalo e hana maple malakeke mimi maʻi mea pono i ka detoxification. No keia mea, plasmapheresis, peritoneal dialysis, transfusion o ke koko eiiiiiaiou, e like me puʻe wale akula kēlā diuresis a me ka hemosorption.

Ma hope o noaaeeecaoee o ka hoʻomanawanui hoʻomaka e hoʻomaʻa metabolic kāna hana. Mua o nā mea a pau ia mea heʻai me ka hoemiia kumuʻiʻo maʻiʻo, i kekahi manawa, paipai aku avoidance o breastfeeding. Ikaika ana o ka pono a hiki i ka ai, e kōkua i ka pale hou poino i ka'emi ko kahua.

enehana Hoikehonua, ua 'ae'ʻaneʻane hoola i ka maʻi maple malakeke. ʻEpekema paipai a me ka lako me ka hoʻomaʻamaʻa ai 'e puku i ka nui'amino nāʻakika. Ka mea, e malama i ka pae ana o pūnao i loko o ka maʻamau huahelu, ae ho'āʻo ana kaʻapu kōheoheo a me ka maʻamauʻai.

I kaʻaeʻana i nā koi, a me ka 'eleu lapaau i ka haukapila i kekahi kanaka ke ola i ka piha ola. Eia naʻe, neurological kāna hana i loko o nā keiki i ulu hikiwawe loa, a me na makua mai,ʻaʻole i manawa e lawe hana kūpono.