ʻO ka hua'ōlelo "metabolism", i loko o ka pōʻaiapili o nā meaʻino kūlohelohe, hōʻike i kahi papa hana o kaʻokiʻana o nā meaʻai kumu olala - proteins, momona a me nā hāʻalea. Ma kēiaʻatikala, e nānāʻia nā hanaʻeha o ka hāeʻaʻana o nā'ōpelu a me nā protein.
Nā Carbohydrates
ʻO nā'ōpeluʻo nā molekino ka carbon, hydrogen a me ka oxygen. Aia nā'aleʻaleʻa maʻalahi a paʻakikī. ʻO nā'ōpolāmā maʻamau ka mea i hoʻohālikelikeʻia e nā suga, i māheleʻia i mono-a me nā disaccharides. ʻO ka mea nui loa o nā'ōmālū maʻa wale he glucose monosaccharide. ʻO nā'ōpona'okole a me nā polysaccharides, e like me ka mākiko, i kahi hanana paʻa. No ka hoʻohālikeʻana i ka'ōhula'ōpala, pono nā haipule a pau e komo i ka meaʻai e puʻunaueʻia i nā meaʻawaʻawa.
Nā Paena
ʻO nā kinatuka he mau kinaika nui ia me nā kaulahao o nā amino acids. He kū hoʻokahi kahi o kēlā me kēia protéine, me konaʻano pono'ī o nā amino acids. Ma keʻano maʻamau, ma ka hana o ka haikule, ua māheleʻia nā molecuka nunui i loko o ko lākou mea amino acids. Hoʻohanaʻia kēia mau amino acids e ke kino e like me ke kumu o ka ikehu a i komo i loko o ke kahakaha o nā meaola'ē aʻe.
Nā polokalamu Enzyme
ʻO ka hana o ka māheleʻana i nā'ōpona a me nā protein e pili ana i ka hana piha o nā pūnaha enzyme o ke kino. Me ka hemahema o hoʻokahi enzyme, ua hoʻopauʻia ke kaʻina hana hāeʻa, iʻikeʻia, e like me nā hiʻohiʻona, i nā maʻi o ka maʻi hanu. Nui nāʻano o nā maʻi make, akā, he mea maʻamau loa.
Hoʻopili
ʻO nā maʻi o ka maʻi maʻamau ka nānāʻana i nā maʻi a me ka hapanui o nā maʻi i loaʻa. I ka manawa like no ka hoʻouluʻana o ka maʻi, he mea pono e loaʻa i nā keiki nā maʻiʻehaʻelua: hoʻokahi mai ka makua kāne mai a mai ka makuahine.
Nā diagnostics
Hiki keʻikeʻia nā maʻi o ka maʻi ma ka manawa prenatal, i ka manawa koke ma hope o ka hānauʻana a iʻole i nā keiki makua. Hiki ke hoʻomanaʻo i nā maʻi o kēia hui ma mua o ka hānauʻiaʻana o ke keiki, inā he mau pilikino kino nā maʻi o kaʻohana.
Nā hōʻailona i nā keiki hou
ʻO nā keiki pēpē me nā maʻi kūkaho kūpilikiʻi ke nānā pinepineʻia i loko o nā pule mua o ke ola. ʻAʻole pinepine lākou i ka waiʻu maikaʻi, ua hiamoe a hoʻoluhi paha, a hiki i kahi hui. I kekahi mau kumu, hoʻonuiʻia ka hoʻonā. ʻAʻole pololei kēia mau hōʻailona no kēia hui o nā maʻi. ʻO kahi hiʻohiʻona o ka poʻe maʻi me nā maʻi kūkaho kūpilikiʻi ka mea maʻamau i kaʻili.
Nā hōʻailona ma ka wā kahiko
Ināʻikeʻia ka maʻi i ka wāʻelemakule, hiki paha i ke keiki ke kūlana maikaʻi o ka maʻi. ʻO kēlā mau keiki he mau hōʻailona likeʻole nō ia o ke maʻi, e like me ka wā'ōpiopio, a me ka haʻaleleʻana i ka manaʻo a me ka uluʻana o ka kino. ʻO nā mea'ē aʻe e pili ana i ka luanaʻana, ka haehae a me ka hele. ʻO nā kumu nui o ka hanaʻana o ka hāʻalo o ka hauʻahu he galactosemia a me glycogenoses. ʻO kēia mau maʻi me nā hōʻailona likeʻole e pili ana i kahi hemahema i ka inoa o nā enzymes. Hoʻomaʻaʻia i loko o ke kohoʻana i ka meaʻai kūikawā. ʻO Galactosemia he maʻi maʻi olaʻole o ka mea e pono ai ka homebohydrate. ʻO ka monosaccharide galactose he māhele ia o ka lactose -ʻo ia ka mea nui o ka waiū o ka waiū me ka waiū.
Ka hopena o ke kino o ka enzyme ma ke kino
Me ka galactosemia, aia kahi hapa o ka enzyme nui o ka metabolism - galactose-1-phosphaturidyl transferase. I kona kaʻawaleʻana, ua hoʻopauʻia ke kaʻina o ka hoʻohuliʻana i ke kālactose i ka glucose (ke kumu nui o ka ikehu no ke kino). ʻO nā keiki me ka galactosemia, he kiʻekiʻe ka galactose i loko o ke koko a me ka'ālunu i ka emiʻana o ka nui o ka glucose. Hiki i kēia maʻi ke hoʻoilina mai ka makuahine a me ka makua kāne.
Nā hōʻailona
ʻO nā keiki me ka galactosemia ma ka hānauʻana,ʻaʻole lākou i ka poʻe maika maikaʻi, akā, hoʻomaka ke kaumaha o ko lākou maʻi ma hope o ka hoʻomakaʻana o ka hānaiʻana (umauma a'ōmole paha). ʻO nā hōʻailona ma lalo nei:
- ka momona (kaʻili a me ka sclera o nā maka e loaʻa kahi kalamelena);
- ka hoʻonuiʻana i ke akepaʻa;
- ka lawaʻole o ka hepa.
Hoʻomaʻoʻia a me ka hōʻailona
Hoʻomaʻaʻia i loko o ka hoʻonohonohoʻana i ka meaʻai lactose-free a gluten-free. Hoʻomaopopo ka hana mua i ka uluʻana o ka hanaʻole o nā pūpū a me nā pilikia'ē aʻe, e like me ka hoʻolālā ulu a me ka hōʻiliʻili. Eia naʻe, ma muli o ka mālama ponoʻana i kaʻai kūpono mai ka wā'ōpiopio mai, he nui nā pilikia o nā keiki me ka galactosemia. ʻO Glycogen keʻano nui o ka mālamaʻana i ka ikehu ma ke kino kanaka. ʻO kona mole nui he mau'āmele glucose liʻiliʻi i hoʻohui pūʻia. Ke pono ke kino i ka glucose e like me ke kumu o ka ike, e hoʻokuʻuʻia mai ka glycogen malalo o ka mana o kekahi mau hormones. Loaʻa i nā'ōpū o ka glycogen i loko o nāʻiʻo a me ke ake.
Nā pōʻino enzymatic
Me nā glycogenoses aia kahi hana kūʻino i nā hana o ka mālamaʻana i nā glycogen, a hiki i ka nele i nā hale glucose. Aia kekahiʻano o nā pōpilikia i loko o nā'ōnaehana enzyme e alakaʻi i ka uluʻana o nā glycogenases. Ma muli o keʻano o ka haʻalulu i haki ai, hiki ke hele pūʻia kēia maʻi
kaʻeha a me ka nāwaliwali o nāʻiʻo, iʻole e hōʻeha i ke ake a me ka naʻau. I loko o ia mau keiki, hiki ke hoʻonuiʻia ka nui o ke koko koko (hypoglycemia).
Nā hana o ka lāʻau
ʻO nā keiki me ka glycogenosis e hoʻomau i ka hana maʻamau 24 mau hora no ka paleʻana i ka hoʻohaʻahaʻa koʻikoʻi o nā kūmole o ke koko. E hānai pinepineʻia lākou. Hiki i nā'ōpiopio ke hikiʻole keʻai i ka meaʻai i nā meaʻai i loko o ka pahu kōmene (kahi i hoʻokomoʻia i loko o ka'ōpū ma ka ihu). Hiki nō hoʻi ke makemakeʻia nā'ōpala Nasogastric no nā keiki e pono ai kaʻai me ka'ōpona i ka wā hiamoe me ka'ākau e hoʻohaʻahaʻa iho i ke kiʻekiʻe o ka toto. Hoʻokumuʻia nā'ōpio i ka lāʻauʻaiʻana me ka maloo kānina (kahi pahuhukahuka nui i loko o nā meaʻono likeʻole). Mālama kēia i ka holoʻana o ka glucose i loko o ke koko a me ka mālamaʻana i kona kūlana i loko o ka maʻamau. ʻAʻohe mea maʻamau o ka hanaʻole o ka pilikino paʻakikī, akā hiki iā lākou ke hoʻoikaika nui i ke kino o ke keiki. ʻO ka mea maʻamau o kēia mau mea he phenylketonuria, tyrosinemia, homocystinuria a valinoleucinuria. Nui nāʻano o nā maʻi kūlikeʻole o ka hoʻokae pūmua. ʻO ka mea maʻamau o kēia mau mea he phenylketonuria, tyrosinemia, homocystinuria a valinoleucinuria.
Phenylketonuria
ʻO Phenylketonuria he maʻi i hōʻikeʻia e ka hapa o ka enzyme phenylal-ninhydroxylase. ʻO ka hopena o ka hanana phenylketonuria mai 1:10 000 a hiki i 1:20 000 hānau hānau. ʻO ia kekahi o nā maʻi o ka maʻi maʻamau, akā, ua liʻiliʻi konaʻano.
ʻO ka lawaʻole o ka enzyme
ʻO ka pauʻole o ka enzyme i loko o phenylketonuria e alakaʻi i ka hoʻonuiʻana i ke kūlana koko o ka phenylalanine amino acid a me kona metabolites - phenylketones. ʻIke lākou i loko o ka mīkini maʻi (ʻo ia hoʻi ka inoa o ka maʻi). Loaʻa i ka Phenylalanine i ka waiū umauma, akā naʻe, no laila ua piʻi kona koko i ke koko o ke keiki i kahi kūlana koʻikoʻi loa,ʻehā a me 5 mau lā o ka hānaiʻana. I nā'āina he nui, ua mālamaʻia nā keiki hou no kēia maʻi i ka hebedoma ma hope o ka hānauʻana. Laweʻia ke koko mai ka wāwae o ke keiki no ka weheweheʻana i ka nānā.
ʻO Dietotherapy
ʻOiai e mālama ana i kahi haʻahaʻa o ka phenylalanine i loko o ke koko, hiki i ke keiki ke ulu a me ka ulu i keʻano. ʻO kaʻai keʻole ka phenylalanineʻo ia keʻanoʻoi aku o keʻano o ka hoʻomaluʻana, a pono e mālamaʻia i loko o ke ola. I ka wā ma waho o ka hoʻomaluʻana, hiki i kēia mau keiki ke ulu i kahiʻanoʻeha o ka maʻi wīwila, ka mea i kapaʻia he spasms infantile, ka lōʻihi o ka uluʻana i ke kino a me ka noʻonoʻo. He haʻahaʻa haʻahaʻa ka IQ ma mua o ko lākou mau hoa, akā, hiki ke loli ke aʻoʻana. ʻO Tyrosinemia kahi maʻi nui. E like me ka hapa nui o nā maʻi o ka pilikino pili honua, kūkuluʻia i ka wā e hele ai ke keiki i nā maʻi kinoʻole mai nā mākuaʻelua. ʻO Tyrosinemia e puka ana ma kahi o 10 mau manawa ma lalo o phenylketonuria. ʻO ka maʻi iʻikeʻia e kahi hapa o ka enzyme acetoacetase fumary a ua hele pū me ka piʻiʻana o ka amino acid tyrosine a me kona metabolites i loko o ke koko.
Nā hōʻailona
I nā maʻi me ka tyrosinemia, hiki ke hoʻouluʻana i ka lawaʻole o ka maʻi. Hōʻalo kokeʻia i nā kamaliʻi me ka maʻi nui. Hoʻohālikelikeʻia nāʻanoʻeha nui ma muli o ka hōʻino mau o ka hānai a me ka hana leki. ʻO ka hapa nui o nā keiki me ka tyrosinemia e hoʻoikaika i ka hepatoma (ke koko o ka huhū).
Hanaʻia
ʻO kaʻai lapaʻau me ka palena o nā huahana e loaʻa ana i ka tyrosine, a me ka hoʻohanaʻana i nā meaʻai e hoʻonui ai i ke kiʻi koko o ka maʻi maʻi. Eia naʻe,ʻaʻole e hiki i kaʻai ke pale i ka hōʻailona o ka ate. I ka hapanui o nā hihia, loaʻa nā maʻi i ka loli o ka'ōpū. ʻOiaiʻoiai, i kēia manawa,ʻo kēia hana wale nō ka mea pono e ola ai. Eia nō naʻe, ke kauʻia nei nā lāʻau i hiki ke pale i ka uluʻana o ka hanu a me ka maʻi lolo. ʻO ka Homocystinuria he maʻi maʻi kūpilikiʻi nui, i hōʻikeʻia i ka'ōpiopio. ʻO ka maʻi iʻikeʻia e ka hapa o ka enzyme cystathione synthetase. Hikiʻole keʻano o ka Homocystinuria - aneane 1 i 350,000 mau keiki hou.
Nāʻano
Hiki i nā keiki me homocystinuria ke:
- ka hōʻeha i ka ulu kino;
- nele i ke kaumaha o ke kino;
- me ka IQ liʻiliʻi;
- kūpono i ka hoʻonāukiuki;
- ka wehewehe (subluxation) o nā lelo o ka maka;
- ke kino lōʻihi me nā manamana lōʻihi.
Hoʻokomoʻia ka Homocystinuria me ka nui o ka hopena o ka hōʻinoʻana i ka myocardial a me ka hahauʻana. Hiki paha keʻikeʻia kekahi hiʻohiʻona maʻamau (kahi i kapaʻiaʻo ka hele o Charlie Chaplin). ʻO kekahi mau keiki e ulu i nā'āpala epileptic. Ma kahi o ka hapalua o nā maʻi me ka homocystinuria e pane pono i ka lāʻauʻo ka lāʻau B (pyridoxine), a hoʻonui i ka hana o ka enzyme hemahema. Aia kēia huaʻa ma kaʻiʻo, ka iʻa a me nā kīʻaha holoʻokoʻa, akā, e makemakeʻia ma nāʻokoʻa kiʻekiʻe aʻe ma mua o ka loaʻaʻana me ka meaʻai. Inā kūʻole ka lāʻau lapaʻau a me ka huaʻa B, e kauʻia kekahi meaʻai me ka palena o nā hua i loaʻa me ka methionine amino acid a me ka hoʻonuiʻana o ka waihona o kekahi amino acid, cysteine. ʻO Valinooleucinuria he maʻi lola i loko o ka hanaʻana o nā amino acids. Loaʻa ia i 1 hihia no 200,000 mau keiki hou. ʻO ka maʻi i keʻano o ka piʻiʻana o ka amino acids me kahi kaula hao.
Nā hōʻailona
ʻO ka maʻi he nui nā hōʻailona. ʻO konaʻano hiʻonaʻo ia keʻala o ka mākeke syrup o ka mimi. ʻO Valynoleucinuria keʻano o nā hōʻailona o kēia mau mea:ʻo keʻanoʻeha o ke keiki; nā hoʻomaha; iʻoi aku ka maʻi o ke koko ma mua o nā mea maʻamau, keʻano o ka hoʻonuiʻiaʻana o ka nui o ke kō koko. Ināʻikeʻia ka hōʻailona ma ka lā mua o ke ola, hiki i ka hōʻailona maikaʻi ke hiki. Eia naʻe, make nā keiki he nui me ka valinoleucinuria i ka wā'ōpiopio. Hiki i nā ola ke loaʻa nā meaʻino i ka uluʻana o ka lolo aʻike pinepine i nā pilikia aʻo.