He aha ka Phenylketonuria (PKU)? Nā hōʻailona a me ka lapaʻau

Phenylketonuria (PKU)He ʻano maʻi ʻano ʻokoʻa ka mea e hoʻokumu ai i kahi amino acid i kapa ʻia ʻo phenylalanine e kūkulu i loko o ke kino. ʻO nā amino acid nā mea kūkulu hale o ka protein. Phenylalanine Loaʻa ia i loko o nā protein āpau a me kekahi mau mea ʻono.

ʻO ka Phenylalanine hydroxylase kahi enzyme e hoʻohana ai ke kino e hoʻololi i ka phenylalanine i tyrosine, pono i ke kino ke hana i nā neurotransmitters e like me epinephrine, norepinephrine, a me dopamine.

Phenylketonuriama muli o kahi hemahema o ka gene e kōkua ana i ka hana ʻana i ka phenylalanine hydroxylase. Ke nalowale kēia enzyme, ʻaʻole hiki i ke kino ke wāwahi i ka phenylalanine. ʻO kēia ke kumu o ke kūkulu ʻana o ka phenylalanine i ke kino.

Hoʻopaʻa ʻia nā pēpē no ka PKU ma hope koke o ka hānau ʻana. ʻO ka ʻike mua a me ka mālama ʻana, nā hōʻailona phenylketonuria hiki ke hoʻohaʻahaʻa a pale i ka pōʻino o ka lolo.

He aha nā hōʻailona o Phenylketonuria?

Nā hōʻailona PKU hiki ke ʻokoʻa mai ka ʻoluʻolu a hiki i ke koʻikoʻi. ʻO ke ʻano koʻikoʻi loa o kēia maʻi phenylketonuria maʻamau ʻike ʻia ma ke ʻano. 

Hiki ke ʻike maʻamau ka pēpē me ka PKU maʻamau no nā mahina mua o ke ola. I loko o kēia manawa ka pēpē phenyltonuria Inā haʻalele ʻole ʻia, hoʻomaka ʻo ia e hoʻomohala i kēia mau hōʻailona:

- hopu

– haalulu

- lawa ʻole ka ulu ʻana

– Ka hoʻoikaika kino

- Eczema nā maʻi ʻili e like me

- ʻAla ʻala o ka hanu, ka ʻili a me ka mimi

Phenylketonuria Inā ʻaʻole ʻike ʻia ka maʻi ma ka hānau ʻana a ʻaʻole hoʻomaka koke ka mālama ʻana, hiki i ka maʻi ke kumu:

- ʻAʻole hiki ke hoʻihoʻi ʻia ka lolo a me ke kīnā o ka naʻau i nā mahina mua o ke ola

- Nā pilikia a me ka hopu ʻana i nā keiki ʻōpio

Ua kapa ʻia kahi ʻano ʻano koʻikoʻi o PKU he ʻano PKU a i ʻole hyperphenylalaniemia non-PKU. Hiki kēia i ka nui o ka phenylalanine i ke kino o ke pēpē.

Hiki i nā pēpē me kēia ʻano o ka maʻi ke loaʻa nā hōʻailona maʻalahi wale nō, akā pono lākou e hahai i kahi meaʻai kūikawā e pale aku ai i ke kino kīnā.

Ke hoʻomaka ʻia kahi meaʻai kikoʻī a me nā lāʻau lapaʻau ʻē aʻe e pono ai, hoʻomaka nā hōʻailona e emi. Phenylketonuria ʻaiʻO ka poʻe nāna e mālama pono i ka maʻi rumatika, ʻaʻole lākou e hōʻike i nā hōʻailona.

He aha ke kumu o Phenylketonuria?

ʻO ka maʻi Phenylketonuriahe maʻi i hoʻoili ʻia ma muli o kahi hemahema o ka gene PAH. Kōkua ka gene PAH i ka hana ʻana i ka phenylalanine hydroxylase, ka enzyme kuleana no ka haki ʻana o ka phenylalanine.

Hiki ke hoʻoulu ʻia ka phenylalanine i ka wā e ʻai ai kekahi i nā meaʻai protein kiʻekiʻe e like me nā hua manu a me ka ʻiʻo.

No ke keiki e hoʻoili i ka maʻi, pono i nā mākua ke loaʻa kahi mana kīnā o ka gene PAH. Inā hoʻokahi wale nō makua e hele i kēia gene, ʻaʻole e loaʻa i ke keiki kekahi mau hōʻailona, ​​​​akā, he mea lawe ia i ka gene.

ʻO nā ʻano o ka phenylketonuria penei;

ʻOkoʻa ka paʻakikī o ka phenylketonuria ma muli o ke ʻano.

PKU kahiko

ʻO ke ʻano koʻikoʻi o ka maʻi i kapa ʻia ʻo PKU maʻamau. ʻO ka enzyme e pono ai e hoʻololi i ka phenylalanine ua nalo a hōʻemi nui ʻia, e hopena i nā pae kiʻekiʻe o ka phenylalanine a me ka pōʻino nui o ka lolo.

ʻO nā ʻano PKU liʻiliʻi

Ma nā ʻano haʻahaʻa a haʻahaʻa paha, mālama ka enzyme i kekahi o kāna mau hana, no laila ʻaʻole kiʻekiʻe nā pae phenylalanine, e hōʻemi ana i ka hopena o ka pōʻino nui o ka lolo.

Eia nō naʻe, paʻakikī ka hapa nui o nā keiki me ka maʻi i ka pale ʻana i ke kīnā ʻole a me nā pilikia ʻē aʻe. ʻai phenylketonuria pono e hahai

Hapai a me Phenylketonuria

Phenylketonuria Hiki i nā wāhine hāpai a hāpai ʻia ke ʻano o ka maʻi i kapa ʻia ʻo PKU makuahine. 

wahine ma mua a ma ka wā hāpai ʻai phenylketonuriaInā ʻaʻole e hahai pono ʻia, piʻi aʻe ke kiʻekiʻe o ke koko phenylalanine a pōʻino i ke keiki e ulu ana a i ʻole ka hāʻule ʻana.

ʻO nā wahine me nā ʻano PKU liʻiliʻi loa, ʻai phenylketonuriaʻAʻole hiki ke hoʻokō i kā lākou mau keiki hānau ʻole i ka pilikia.

ʻO nā pēpē i hānau ʻia e nā makuahine me nā pae kiʻekiʻe o ka phenylalanine ka maʻi phenylketonuriaʻAʻole lākou i hoʻoilina. Eia nō naʻe, inā kiʻekiʻe ka pae koko o ka makuahine o ka phenylalanine i ka wā hāpai, hiki ke loaʻa i nā hopena koʻikoʻi. ʻO nā pilikia i ka hānau ʻana he:

– Ke kaumaha hānau haʻahaʻa

– Hoʻopaneʻe ka hoʻomohala ʻana

- nā mea ʻino o ka helehelena

– Poʻo liʻiliʻi ʻē

- Nā pilikia puʻuwai a me nā pilikia puʻuwai ʻē aʻe

– pilikia kino

- Nā pilikia pili 

He aha nā mea pilikia no ka maʻi Phenylketonuria?

ʻO nā kumu pilikia no ka hoʻoili ʻana i ka phenylketonuria:

Loaʻa i nā mākua ʻelua kahi gene defect e kumu ai ka PKU

Pono nā mākua ʻelua e hāʻawi i hoʻokahi kope o ka gene defect no kā lāua keiki e hoʻomohala i kēia maʻi.

loaʻa kahi lāhui kikoʻī

ʻO ka maʻi PhenylketonuriaʻOkoʻa ka maʻi ʻino e hoʻoulu ai i ka maʻi rheumatoid e ka lāhui a ʻaʻole maʻamau i nā ʻAmelika-ʻAmelika ma mua o nā hui ʻē aʻe.

Phenylketonuria Nā pilikia o ka maʻi

lapaʻau ʻole ʻia ka maʻi phenylketonuriahiki ke alakaʻi i nā pilikia i nā kamaliʻi, nā keiki, a me nā mākua me ka maʻi.

me ka phenylketonuria Ke loaʻa i nā makuahine ke kiʻekiʻe o ka phenylalanine koko i ka wā hāpai, hiki i nā hemahema hānau keiki a i ʻole ka hāʻule ʻana.

lapaʻau ʻole ʻia ka maʻi phenylketonuria hiki ke alakaʻi i:

- Ka pōʻino lolo hiki ʻole ke hoʻihoʻi ʻia a me ke kīnā ʻole nui e hoʻomaka ana i nā mahina mua o ke ola

ʻO nā pilikia neurological e like me ka hopu a me ka haʻalulu

- Nā pilikia pili kino, naʻau a me ka pilikanaka i nā keiki makua a me nā mākua

- Nā pilikia olakino a me ka ulu ʻana

Nānā Phenylketonuria

Ho'āʻo Phenylketonuria (PKU).

Lawe ke kauka i kekahi mau kulu koko mai ka kuʻekuʻe wāwae o ke pēpē e hoʻāʻo ai no ka PKU a me nā maʻi ʻē aʻe. Hana ʻia ka hoʻāʻo ʻana i ka wā o ka pēpē i hoʻokahi a ʻelua mau lā a aia nō i ka haukapila.

Hiki ke ho'āʻo hou ʻia e hōʻoia i nā hopena mua. Ke nānā nei kēia mau ho'āʻo ʻana i ka hiki ʻana mai o ka PAH gene mutation e kumu ai ka PKU. Hana ʻia kēia mau hoʻokolohua ʻeono pule ma hope o ka hānau ʻana.

Inā hōʻike ke keiki a makua paha i nā hōʻailona o ka PKU, e like me ka lohi o ka ulu ʻana, e kauoha ke kauka i kahi hoʻāʻo koko e hōʻoia i ka ʻike. ʻO kēia hoʻāʻo e pili ana i ka lawe ʻana i kahi laʻana koko a me ka nānā ʻana iā ia no ka loaʻa ʻana o ka enzyme e pono ai e wāwahi i ka phenylalanine.

Lapaʻau Phenylketonuria

Phenylketonuria Hiki i ka poʻe me ka maʻi diabetes ke hoʻomaha i nā hōʻailona a pale i nā pilikia ma o ka hahai ʻana i kahi meaʻai kūikawā a me ka lawe ʻana i ka lāʻau lapaʻau.

ʻAi Phenylketonuria

ʻO ke ala nui e mālama ai i ka PKU me kahi meaʻai kūikawā e kaupalena ana i nā meaʻai me ka phenylalanine. Hiki ke hānai ʻia nā pēpē me ka PKU.

Pono lākou e ʻai i kahi ʻano hana kūikawā, i kapa ʻia ʻo Lofenalac. Ke nui ka pēpē e ʻai i nā meaʻai paʻa, pono e pale i ka ʻae ʻana iā ia e ʻai i nā meaʻai kiʻekiʻe i ka protein. ʻO kēia mau meaʻai:

- Huamoa

- Kīkī

- Hazelnut

- Waiu

- Piʻi

- moa

- Pipi

- ʻO ka iʻa

He mea nui e hoʻomaopopo he ʻokoʻa nā papaʻai PKU mai kēlā me kēia kanaka. Pono ka poʻe me ka PKU e hana pū me ke kauka a i ʻole ka meaʻai meaʻai e hōʻoia i ke kaulike kūpono o nā meaʻai me ka kaupalena ʻana i kā lākou ʻai ʻana i ka phenylalanine.

Pono lākou e nānā i nā pae phenylalanine ma ka mālama ʻana i nā moʻolelo o ka nui o ka phenylalanine i nā meaʻai a lākou e ʻai ai i ka lā. 

lāʻau

PKU lapaʻau Hoʻohana ʻia ʻo Sapropterin (Kuvan) no Kōkua ʻo Sapropterin e hoʻohaʻahaʻa i nā pae phenylalanine.

Pono e hoʻohana pū ʻia kēia lāʻau lapaʻau me kahi papaʻai PKU kikoʻī. Akā naʻe, ʻaʻole kūpono ia no kēlā me kēia me ka PKU. ʻOi aku ka maikaʻi i nā keiki me nā maʻi haʻahaʻa o PKU.

I ka manawa hea ʻoe e ʻike ai i ke kauka?

I kēia mau hihia, pono e ʻimi i ke kōkua olakino:

keiki hānau hou

Inā hōʻike nā hoʻokolohua maʻamau i nā keiki hou he PKU paha ka pēpē, makemake ke kauka o ke keiki e hoʻomaka koke i ka lāʻau ʻai i mea e pale ai i nā pilikia lōʻihi.

wahine hānau keiki

He mea nui loa i nā wāhine me ka mōʻaukala o PKU ke ʻike i ke kauka ma mua a i ka wā o ka hāpai ʻana a mālama i ka meaʻai PKU e hōʻemi i ka hopena o ke kiʻekiʻe o ke koko kiʻekiʻe o ka phenylalanine e hōʻeha i kā lākou pēpē hānau ʻole.

Nā mākua

Hoʻomau ka poʻe me ka PKU i ka mālama ʻana i ko lākou ola a pau. Pono nā mākua me PKU e ho'ōki i ka ʻai PKU i ka wā ʻōpio e ʻike i ke kauka.

Hiki i ka hoʻi ʻana i ka meaʻai ke hoʻomaikaʻi i ka hana noʻonoʻo a me ke ʻano a hoʻolōʻihi i ka pōʻino i ka ʻōnaehana nū waena e hiki ke hopena mai nā pae kiʻekiʻe o ka phenylalanine.

ʻO ka poʻe me ka phenylketonuria;

ʻO nā mea maʻi Phenylketonuriama hope koke iho o ka hānau ʻana phenylketonuria meaʻai Inā hahai lākou i kāna hoʻolālā, ʻaʻohe pilikia.

Ke hoʻopaneʻe ʻia ka maʻi a me ka mālama ʻana, hiki ke hōʻeha i ka lolo. Hiki mai ke kino kīnā. Hiki i ka PKU mālama ʻole ʻia ke hopena i:

– Hoʻopaneʻe ka hoʻomohala ʻana

- Nā pilikia pili kino a me nā manaʻo

Nā pilikia neurological e like me ka haʻalulu a me ka hopu

Hiki ke pale ʻia ka Phenylketonuria?

ʻO Phenylketonuria kahi maʻi genetic, no laila ʻaʻole hiki ke pale ʻia. Eia nō naʻe, hiki ke hana i kahi hōʻike enzyme no ka poʻe e hoʻolālā ana e hānau keiki.

He ho'āʻo koko kēia enzyme assay e hiki ke hoʻoholo inā lawe kekahi i ka gene defect e kumu ai ka PKU. Hiki ke ho'āʻo ʻia i ka wā hāpai e nānā i nā pēpē i hānau ʻole ʻia no ka PKU.

Phenylketonuria Inā hana ʻoe, hiki iā ʻoe ke pale i nā hōʻailona ma ka hahai ʻana i kahi hoʻolālā meaʻai maʻamau i kou ola.