He aha ka Phenylketonuria? Nā hōʻailona, nā kumu, a me ka mālama

ʻO ka Phenylketonuria, i kapa pinepine ʻia ʻo PKU, he ʻano maʻi genetika kānalua kahi hiki ʻole i kou kino ke wāwahi pono i kahi amino acid i kapa ʻia ʻo phenylalanine. Loaʻa kēia amino acid i nā meaʻai momona protein e like me ka ʻiʻo, nā hua manu, a me nā huahana waiū.

Ke loaʻa i kekahi kanaka ka PKU, e kūkulu ʻia ka phenylalanine i loko o ko lākou koko a hiki ke hōʻino i ka lolo inā waiho ʻole ʻia. ʻO ka ʻoiaʻiʻo maikaʻi, me ka ʻike mua ma o ka nānā ʻana i nā pēpē hou a me ka hoʻokele ʻai kūpono, hiki i nā kānaka me ka PKU ke ola i nā ola maʻamau loa, olakino.

He aha ka Phenylketonuria?

Hana ʻia ka PKU i ka wā e nele ai kou kino a i ʻole he liʻiliʻi loa o kahi enzyme i kapa ʻia ʻo phenylalanine hydroxylase. E noʻonoʻo i kēia enzyme e like me ka mea hana kūikawā nona ka hana ke hoʻololi i ka phenylalanine i kahi amino acid ʻē aʻe i kapa ʻia ʻo tyrosine e hiki i kou kino ke hoʻohana me ka palekana.

Me ka nele o kēia enzyme, e hōʻiliʻili ka phenylalanine i loko o kou koko a me nā pūnaewele. ʻO nā kiʻekiʻe o ka phenylalanine he mea ʻino i nā sela lolo, ʻoiai i ka wā kamaliʻi a me ke kamaliʻi i ka wā e ulu ana ka lolo.

Hoʻopilikia ka PKU ma kahi o 1 i 10,000 a 15,000 mau pēpē i hānau ʻia ma ʻAmelika Hui Pū ʻIa. Loaʻa ia mai ka hānau ʻana a pono i ka hoʻokele ola, akā me ka mālama pono, ʻaʻole pono ia e kaupalena i kāu mea hiki ke hoʻokō i ke ola.

He aha nā hōʻailona o ka Phenylketonuria?

ʻO nā pēpē i hānau ʻia me ka PKU maʻamau e kūlike loa i ka hānau ʻana. Eia naʻe, hiki i nā hōʻailona ke ulu i loko o nā mahina mua inā ʻike ʻole ʻia a mālama ʻole ʻia ke kūlana.

Eia nā hōʻailona mua e hiki ke ʻike ʻia i nā pēpē me ka PKU i mālama ʻole ʻia:

• Ka naʻauao naʻauao e ʻike ʻia hou aku ma hope o ka manawa
• Ka hoʻomohala lohi i ka noho ʻana, ka hele ʻana, a i ʻole ka hele ʻana
• Nā pilikia ʻano e like me ka hyperactivity a i ʻole ka hoʻouka kaua
• Nā hoʻouka ʻana a i ʻole nā tremors
• Nā ʻili ʻili a i ʻole ka eczema
• Kahi ʻala ʻala a i ʻole ʻiole-e like me ka hanu, ʻili, a i ʻole ka mimi
• ʻIli māmā a me ka lauoho keʻokeʻo ma muli o ka emi ʻana o ka hana melanin
• Ka nui o ke poʻo liʻiliʻi i hoʻohālikelike ʻia me nā keiki ʻē aʻe o ko lākou mau makahiki

Hana ʻia ka ʻala ʻala ma muli o ka hoʻololi ʻia ʻana o ka phenylalanine nui i nā mea ʻē aʻe e hoʻopau ai kou kino ma o ka mimi a me ka hou. Hiki ke pale aku loa i kēia mau hōʻailona i ka wā e hopu koke ʻia ai ka PKU a mālama pono ʻia.

I kekahi mau hihia, hiki i nā kānaka ke loaʻa kahi ʻano palupalu o ka PKU ʻaʻole e hoʻokumu i nā hōʻailona koʻikoʻi akā pono nō hoʻi ka nānā ʻana i ka ʻai. ʻO ia ke kumu he mea nui loa ka nānā ʻana i nā pēpē hou no ka hopu ʻana i nā ʻano āpau o ke kūlana.

He aha nā ʻano o ka Phenylketonuria?

ʻAʻole he kūlana hoʻokahi wale nō ka PKU akā ʻo ia hoʻi nā maʻi pili e pili ana i ke ʻano o ka hoʻoponopono ʻana o kou kino i ka phenylalanine. ʻO ka ʻokoʻa nui ma waena o nā ʻano ʻo ka nui o ka hana enzyme i koe i loko o kou kino.

ʻO ka PKU Classic ka ʻano koʻikoʻi loa, kahi e loaʻa ai iā ʻoe ka liʻiliʻi a i ʻole ka ʻole o ka hana enzyme phenylalanine hydroxylase. Pono nā kānaka me ka PKU Classic e hahai i kahi ʻai haʻahaʻa phenylalanine i ko lākou ola.

Hana ʻia ka PKU palupalu a i ʻole ka hyperphenylalaninemia ʻaʻole PKU i ka wā e loaʻa ai iā ʻoe kekahi hana enzyme i koe. Hiki iā ʻoe ke pono i nā hoʻololi ʻai, akā maʻamau lākou ʻoi aku ka liʻiliʻi ma mua o nā mea i koi ʻia no ka PKU Classic.

Aia kekahi ʻano kānalua i kapa ʻia ʻo ka PKU ʻino a i ʻole ka PKU atypical, kahi e pili ana i nā pilikia me nā enzyme ʻē aʻe e pono ai e hoʻohana hou i ka cofactor e kōkua i ka hana phenylalanine hydroxylase. ʻOi aku ka paʻakikī o kēia ʻano e mālama a ʻaʻole paha e pane maikaʻi i nā hoʻololi ʻai wale nō.

He aha nā kumu o ka Phenylketonuria?

Hoʻokumu ʻia ka PKU e nā loli (mutations) i ka gene PAH, kahi e hāʻawi ai i nā ʻōlelo aʻo no ka hana ʻana i ka enzyme phenylalanine hydroxylase. E hoʻoilina ʻoe i kēia kūlana genetika mai kou mau mākua.

No ka hoʻomohala ʻana i ka PKU, pono ʻoe e hoʻoilina i ʻelua mau kope o ka gene mutated, hoʻokahi mai kēlā me kēia mākua. Kēia ka mea i kapa ʻia ʻo ka hoʻoilina autosomal recessive. Inā hoʻoilina wale ʻoe i hoʻokahi kope mutated, he mea hāpai ʻoe akā ʻaʻole ʻoe e loaʻa i ka PKU.

Ke hāpai nei nā mākua ʻelua, loaʻa i kēlā me kēia hāpai ʻana ka 25% manawa e hopena ai i kahi keiki me ka PKU, ka 50% manawa o ka loaʻa ʻana o kahi keiki hāpai, a me ka 25% manawa o ka loaʻa ʻana o kahi keiki me ka ʻole o nā mutations. ʻAʻole maʻamau nā hōʻailona a me nā pae phenylalanine maʻamau i nā mea hāpai.

Ua ʻike ʻia ma mua o 1,000 mau mutations like ʻole i ka gene PAH. Hoʻopau loa kekahi mau mutations i ka hana enzyme, ʻoiai ke hoʻemi nei kekahi iā ia i nā pae like ʻole, kahi e wehewehe ai i ke kumu o ka PKU e ʻokoʻa ma waena o nā kānaka.

I ka wā hea e ʻike ai i ke kauka no ka Phenylketonuria?

I ka hapa nui o nā ʻāina holomua, nānā ʻia nā pēpē hou a pau no ka PKU i loko o nā lā mua o ke ola, no laila e ʻike maʻamau ʻoe i ke kūlana ma mua o ka ʻike ʻia ʻana o nā hōʻailona. Inā hōʻoia kāu pēpē, e hoʻouna ʻia ʻoe i kahi loea koke.

Pono ʻoe e hoʻokaʻaʻike koke i kāu mea mālama ola inā hōʻike kāu keiki i kekahi hōʻailona o nā hoʻomohala lohi, nā hoʻololi ʻano, a i ʻole ka ʻala ʻala ʻano, ʻoiai inā ʻaʻole i hana ʻia ka nānā ʻana i nā pēpē hou a i ʻole inā pilikia ʻoe i nā hopena hoʻokolohua.

Pono nā mākua me ka PKU i ka nānā mau i ko lākou ola. E hoʻokaʻaʻike i kāu kauka inā pilikia ʻoe i ka mālama ʻana i kāu ʻai, e ʻike ana i nā hoʻololi manaʻo, a i ʻole e hana ana me nā pilikia hoʻomaopopo, ʻoiai hiki i kēia ke hōʻike i kou mau pae phenylalanine kiʻekiʻe.

Pono nā wahine me ka PKU e hoʻolālā ana e hāpai i ka nānā kūikawā mai ke kauka. Hiki i nā pae phenylalanine kiʻekiʻe i ka wā hāpai ke hōʻino i ka pēpē e ulu ana, ʻoiai inā ʻaʻole loaʻa i ka pēpē ka PKU.

He aha nā pilikia pilikia no ka Phenylketonuria?

Ke mālama pono ʻia ka PKU mai ka hānau ʻana, hiki ke pale aku loa i ka hapa nui o nā pilikia. Eia naʻe, inā waiho ʻole ʻia a i ʻole mālama ʻole ʻia, hiki i ka PKU ke alakaʻi i nā pilikia lōʻihi koʻikoʻi.

ʻO ka pilikia koʻikoʻi loa ka naʻauao naʻauao, hiki ke koʻikoʻi a hiki ʻole ke hoʻololi ʻia inā mau nā pae phenylalanine kiʻekiʻe i ka wā e ulu ana ka lolo. Hana maʻamau kēia i ka wā ʻaʻole i ʻike ʻia a mālama ʻia ka PKU i loko o nā mahina mua o ke ola.

Eia nā pilikia ʻē aʻe o ka PKU i mālama ʻole ʻia:

• Nā pilikia ʻano a me nā pilikia psychiatric e komo pū ana me ka ADHD, ka hopohopo, a me ka kaumaha
• Nā maʻi hoʻouka e paʻakikī paha ke kaohi
• Nā tremors a me nā pilikia neʻe ʻē aʻe
• Nā hoʻomohala ulu a me ka nui o ke kino liʻiliʻi ma mua o ka awelika
• Nā pilikia ʻili e komo pū ana me ka eczema a me nā rashes
• Nā hemahema naʻau i nā hihia kānalua
• Nā pilikia iwi a me ka hoʻonui ʻia o ka pilikia haki

ʻOiai me ka mālama ʻai maikaʻi, hiki i kekahi mau mākua me ka PKU ke ʻike i nā hopena naʻauao iki a i ʻole nā hoʻololi manaʻo inā ʻaʻole kūpono ko lākou mau pae phenylalanine. Kōkua ka nānā mau i ka pale ʻana i kēia mau pilikia.

ʻO ka PKU makuahine he mea hopohopo koʻikoʻi no nā wahine me ka PKU e hāpai ana. Hiki i nā pae phenylalanine kiʻekiʻe ke hoʻokumu i nā hemahema hānau, ka naʻauao naʻauao, a me nā pilikia naʻau i ka pēpē, ʻaʻole pili inā loaʻa i ka pēpē ka PKU.

Pehea ka hōʻoia ʻana o ka Phenylketonuria?

Hoʻomaopopo ʻia ka PKU ma ka nānā ʻana i nā pēpē hou, kahi e komo ai ka lawe ʻana i kahi kiko koko liʻiliʻi mai ka kuʻekuʻe o kāu pēpē i loko o nā hola 24 a 48 ma hope o ka hānau ʻana. Ke ana kēia hoʻokolohua i nā pae phenylalanine i loko o ke koko.

Inā hōʻike ka nānā mua i nā pae phenylalanine kiʻekiʻe, e hana ʻia nā hoʻokolohua hou e hōʻoia i ka hōʻoia. Hiki i kēia ke komo pū me nā hoʻokolohua koko hou, nā hoʻokolohua mimi, a me nā hoʻokolohua gene e ʻike i nā mutations kūikawā e komo ana.

Ke ana pū nā kauka i nā pae tyrosine a helu i ka lākiō phenylalanine-to-tyrosine, kahi e kōkua ai e hoʻoholo i ke koʻikoʻi o ke kūlana a alakaʻi i nā hoʻoholo mālama. I kekahi manawa, hana ʻia nā hoʻokolohua e ana pololei i ka hana enzyme.

I nā hihia kānalua kahi ʻaʻole i hana ʻia ka nānā ʻana i nā pēpē hou a i ʻole he mea hōʻoia ʻole, hiki ke ʻike ʻia ka PKU ma hope inā ʻike ʻia nā hōʻailona. Hiki i nā hoʻokolohua koko a me ka mimi ke ʻike i nā pae phenylalanine kiʻekiʻe i kēlā me kēia makahiki.

Hiki ke ʻōlelo ʻia ka ʻōlelo aʻo genetika a me ka hoʻokolohua ʻohana e ʻike i nā mea hāpai a hāʻawi i ka ʻike no nā hoʻolālā ʻohana e hiki mai ana.

He aha ka mālama no ka Phenylketonuria?

ʻO ka mālama nui no ka PKU ʻo ia ka hahai ʻana i kahi ʻai haʻahaʻa phenylalanine i hoʻolālā pono ʻia i kou ola holoʻokoʻa. ʻO ia hoʻi ka palena ʻana a i ʻole ka pale ʻana i nā meaʻai kiʻekiʻe i ka protein, ʻoiai loaʻa ka phenylalanine i ka protein.

E hana ʻoe me kahi dietitian i hoʻopaʻa inoa ʻia e kūikawā ana i ka PKU e hana i kahi papa ʻai e hoʻokō i kāu mau pono meaʻai āpau ʻoiai e mālama ana i nā pae phenylalanine i kahi pae palekana. Hoʻokomo maʻamau kēia i ka ʻai ʻana i nā hua, nā mea kanu, a me nā meaʻai haʻahaʻa protein kūikawā.

ʻO nā fomula lapaʻau kūikawā a me nā mea hoʻohui he mau ʻāpana nui o ka mālama ʻana i ka PKU. Hāʻawi kēia i ka protein, nā wikamina, a me nā minelala e pono ai ʻoe me ka ʻole o ka phenylalanine. Nui nā kānaka me ka PKU e hilinaʻi ana i kēia mau fomula e like me ko lākou kumu protein nui.

He mea nui nā hoʻokolohua koko maʻamau no ka nānā ʻana i kāu mau pae phenylalanine a me ka hoʻoponopono ʻana i kāu ʻai e like me ka pono. Hiki ke hana ʻia kēia mau hoʻokolohua i kēlā me kēia pule i ka wā kamaliʻi, a laila emi pinepine i kou ulu ʻana a kūpaʻa kāu mau pae.

Hiki i kekahi mau kānaka me nā ʻano palupalu o ka PKU ke pōmaikaʻi mai ka lāʻau lapaʻau i kapa ʻia ʻo sapropterin (Kuvan), kahi e kōkua ai e hoʻonui i ka hana o ka enzyme i koe. Eia naʻe, ʻaʻole hana kēia lāʻau lapaʻau no nā kānaka āpau a hoʻohana ʻia maʻamau me ka hoʻokele ʻai.

No ka poʻe me nā ʻano koʻikoʻi loa o ka PKU, ke noiʻi ʻia nei nā mālama hou e like me ka enzyme replacement therapy a me ka gene therapy, ʻoiai ʻaʻole i loaʻa nui kēia mau mea.

Pehea e mālama ai i ka PKU ma ka home?

Pono ka mālama ʻana i ka PKU ma ka home i ka hoʻolālā akahele a me ka nānā kikoʻī, akā lilo ia i mea maʻamau me ka hoʻomaʻamaʻa. ʻO ke kī ʻo ka aʻo ʻana e heluhelu i nā lepili meaʻai a me ka hoʻomaopopo ʻana i nā meaʻai palekana e ʻai.

E mālama i kahi puke moʻolelo meaʻai e hahai i kāu ʻai phenylalanine a kōkua e ʻike i nā ʻano inā piʻi kāu mau pae koko. Nui nā kānaka e ʻike i nā polokalamu kelepona paʻalima e kōkua i ka helu ʻana i ka nui o ka phenylalanine i nā meaʻai.

E hoʻomākaukau i nā meaʻai ma mua inā hiki, a loaʻa mau nā meaʻai palekana. Kōkua kēia e pale aku i nā kūlana kahi e hoʻowalewale ʻia paha ʻoe e ʻai i nā meaʻai e hiki ke hoʻokiʻekiʻe i kāu mau pae phenylalanine.

E lawe i kāu fomula lapaʻau a i ʻole nā mea hoʻohui mau, ʻoiai inā ʻaʻole ʻoluʻolu ʻoe i ka ʻono. Hāʻawi kēia i nā meaʻai nui e hiki ʻole iā ʻoe ke loaʻa mai kāu ʻai palena wale nō.

Pehea ʻoe e hoʻomākaukau ai no kāu hālāwai kauka?

Ma mua o kāu hālāwai, e hōʻiliʻili i kāu mau hopena hoʻokolohua koko hou a me ka puke moʻolelo meaʻai inā mālama ʻoe i hoʻokahi. Kōkua kēia ʻike i kāu hui mālama ola e hoʻomaopopo i ke ʻano o ka hana ʻana o kāu papahana mālama i kēia manawa.

E kākau i kekahi mau hōʻailona āu i ʻike ai, nā hoʻololi i kāu makemake, a i ʻole nā pilikia āu e loaʻa nei me kāu ʻai. Hiki i nā hoʻololi liʻiliʻi ke lilo i mea nui no ka mālama pono ʻana i ka PKU.

E hoʻomākaukau i kahi papa inoa o nā nīnau e pili ana i kāu mālama, e like me ka mea kōkua paha i nā hoʻololi i kāu ʻai a i ʻole he mau koho mālama hou āu e noʻonoʻo ai.

Inā hoʻolālā ʻoe i ka hāpai ʻana, e lawe ana i nā lāʻau lapaʻau hou, a i ʻole e kūʻē ana i nā hoʻololi ola nui, e kūkākūkā i kēia me kāu hui mālama ola. Hiki iā lākou ke kōkua iā ʻoe e hoʻoponopono i kāu papahana mālama e like me ke kūpono.

E lawe mai i kahi lālā ʻohana a hoaaloha paha inā makemake ʻoe i ke kākoʻo, ʻoiai inā kūkākūkā ʻoe i nā hoʻoholo mālama paʻakikī a i ʻole inā manaʻo ʻoe ua kaumaha ʻia ʻoe e ka mālama ʻana i kou kūlana.

He aha ka lawe nui e pili ana i ka Phenylketonuria?

He kūlana genetika koʻikoʻi ka PKU, akā ʻo ia kekahi o nā maʻi hoʻoilina i mālama ʻia maikaʻi loa i ka wā e hopu koke ʻia ai. Me ka hoʻokele ʻai kūpono a me ka mālama lapaʻau, hiki i nā kānaka me ka PKU ke ola i nā ola maʻamau loa, olakino.

ʻO ka mea nui loa e hoʻomanaʻo ai ʻo ka ʻike mua a me ka mālama mau e hana i ka ʻokoʻa āpau. Mahalo i nā papahana nānā pēpē hou, ʻike ʻia a mālama ʻia ka hapa nui o nā pēpē me ka PKU ma mua o ka hana ʻia ʻana o kekahi hōʻino.

ʻOiai ka hahai ʻana i kahi ʻai haʻahaʻa phenylalanine e pono ai ka hoʻohiki a me ka hoʻolālā, hiki ke mālama ʻia me ke kākoʻo a me nā kumuwaiwai kūpono. Nui nā kānaka me ka PKU e alakaʻi ana i nā ʻoihana holomua, loaʻa nā ʻohana, a komo piha i nā ʻaoʻao āpau o ke ola.

Inā ʻoe a i ʻole kekahi āu e aloha ai i ka PKU, e hoʻomanaʻo ʻaʻole ʻoe wale nō. Loaʻa nā pūnaewele kākoʻo maikaʻi loa, nā mea mālama ola kūikawā, a me nā koho mālama e hoʻomaikaʻi mau nei e kōkua iā ʻoe e ulu.

Nā nīnau i nīnau pinepine ʻia e pili ana i ka Phenylketonuria

Hiki i nā kānaka me ka PKU ke ʻai i nā meaʻai maʻamau?

Hiki i nā kānaka me ka PKU ke ʻai i nā meaʻai “maʻamau” he nui, akā pono lākou e koho pono i nā kumu protein. Maikaʻi ka hapa nui o nā hua a me nā mea kanu, a aia nā mana haʻahaʻa protein i hana kūikawā ʻia o nā berena, nā pasta, a me nā mea ʻē aʻe. ʻOiai ʻaʻole hiki iā lākou ke ʻai i nā meaʻai kiʻekiʻe protein e like me ka ʻiʻo, ka iʻa, nā hua manu, a me nā waiū i nā nui maʻamau, hiki iā lākou ke loaʻa pinepine nā ʻāpana liʻiliʻi, i ana ʻia ma muli o ko lākou mau pae hoʻomanawanui.

Ua ho'ōla ʻia ka PKU?

I kēia manawa, ʻaʻohe lāʻau lapaʻau no ka PKU, akā hiki ke mālama ʻia loa. Hiki i ka ʻai haʻahaʻa phenylalanine a me ka hoʻokele lapaʻau ke pale aku loa i nā pilikia koʻikoʻi e pili ana i ke kūlana. Ke hana nei nā mea noiʻi i nā lāʻau lapaʻau hiki, e komo pū ana me ka gene therapy a me nā mālama enzyme replacement, akā he mau hoʻokolohua kēia.

Hiki i nā wahine me ka PKU ke loaʻa nā pēpē olakino?

ʻAe, hiki i nā wahine me ka PKU ke loaʻa nā pēpē olakino, akā pono ia i ka hoʻolālā akahele a me ka nānā mai ke kauka. Pono lākou e hoʻokō a mālama i nā pae phenylalanine haʻahaʻa loa ma mua o ka hāpai ʻana a i ka wā hāpai. Hoʻokomo maʻamau kēia i ka hahai ʻana i kahi ʻai palena ʻoi aku ka nui ma mua o ka maʻamau, akā me ka mālama pono, hiki ke hoʻemi nui ʻia ka pilikia o nā hemahema hānau.

Hoʻopilikia anei ka PKU i ka lōʻihi o ke ola?

Ke mālama pono ʻia mai ka hānau ʻana, ʻaʻole hoʻopilikia nui ka PKU i ka lōʻihi o ke ola. Hiki i nā kānaka me ka PKU i mālama pono ʻia ke ola lōʻihi e like me nā poʻe ʻē aʻe. ʻO ke kī ʻo ka mālama ʻana i ka mālama ʻai maikaʻi a me ka nānā lapaʻau mau i ke ola.

He aha ka mea e hana ai inā ʻai hewa kekahi me ka PKU i ka meaʻai kiʻekiʻe protein?

ʻAʻole e hoʻokumu koke i ka hōʻino ka ʻai ʻana i nā meaʻai kiʻekiʻe i ka phenylalanine, akā hiki ke hoʻokiʻekiʻe i nā pae phenylalanine koko i ka manawa pōkole. Hiki i kēia ke hoʻokumu i nā hōʻailona pōkole e like me ka pilikia hoʻomaopopo, nā hoʻololi manaʻo, a i ʻole nā poʻo ʻeha. ʻO ka mea nui ʻo ka hoʻi ʻana i ke ala me ka ʻai kūpono a me ka ʻike ʻana i kāu hui mālama ola, ka mea e hiki ai ke ʻōlelo aku i ka nānā koko hou aku.