ʻO Phenylketonuria kahi maʻi i hōʻike ʻia e ka non-assimilation (a i ʻole non-metabolization) o phenylalanine.

ʻO Phenylalanine kahi amino acid pono me ke kuleana nui i loko o ka ʻōnaehana hopohopo e ka hoʻoulu ʻana i ka kelu thyroid. He stimulant ʻepekema hoʻi ia. ʻAʻole synthesize ʻia kēia amino acid e ke kino a no laila pono e hoʻolako ʻia by mea ʻai. ʻOiai, ʻo phenylalanine kekahi o nā mea i paʻa i nā meaʻai āpau i waiwai i nā protein o ka holoholona a me nā mea kanu: kaʻiʻo, ka iʻa, ka hua manu, ka soy, ka waiū, ka tī, a pēlā aku.

He maʻi laha ʻole ia a me nā maʻi hoʻoilina e pili ana i nā kaikamahine a me nā keikikāne, me ka ʻole o ka preponderance kikoʻī.

Inā ʻaʻole ʻike ʻia ka maʻi i ka wanaʻao loa no ka mālama wikiwiki ʻana, hiki i ka hōʻiliʻili ʻana o kēia mea i loko o ke kino a i loko o ka ʻōnaehana hopohopo. ʻO ka nui loa o ka phenylalanine i ka lolo e hoʻomohala nei he mea ʻona.

ʻO nā phenylalanine nui i loaʻa i ke kino e hoʻoneʻe ʻia e ka ʻōnaehana renal a no laila loaʻa i ka mimi o ka mea maʻi, ma ke ʻano o nā phenylketones. (2)

Ma Palani, kahi ʻōnaehana hōʻike phenylalanine kahi ʻōnaehana i ka wā hānau: Hōʻike ʻo Guthrie.

ʻO ka laha (helu o ka poʻe me ka maʻi i ka heluna kanaka i kahi manawa i hāʻawi ʻia), pili i ka ʻāina e pili ana a hiki ke loli ma waena o 1/25 a me 000/1.

I Palani, ka laha o phenylketonuria ka 1 / 17. (000)

Mālama ʻia kēia maʻi me ka papaʻai haʻahaʻa i loko o ka protein e hoʻoliʻiliʻi i ke kiʻekiʻe o ka phenylalanine i ke kino o ka mea maʻi a kaohi i ka ʻino o ka lolo.

ʻO ka mālama mua ʻana i ka maʻi e pale pinepine i ka ulu ʻana o nā ʻōuli.

Eia kekahi, ʻo ka hoʻomaʻamaʻa lohi e alakaʻi ʻia nei i kahi hōʻiliʻili o kēia mole i ka lolo he mau hopena: (3)

- nā pilikia aʻo;

- nā pilikia o ka hana;

- nā maʻi maʻi epileptic;

- eczema.

ʻEkolu ʻano o ka maʻi i hōʻike ʻia ma hope o nā hoʻokolohua koko i ka wā hānau: (2)

- phenylketonuria maʻamau: me phenylalaninemia (pae o phenylalanine i ke koko) ʻoi aku ma mua o 20 mg / dl (a i ʻole 1 μmol / l);

- phenylketonuria atypical: me kahi pae ma waena o 10 a me 20 mg / dl (a i ʻole 600-1 µmol / l);

- Hyperphenylalaninemia kaulike mau (HMP) kahi o ka phenylalaninemia ma lalo o 10 mg / dl (a i ʻole 600 μmol / l). ʻAʻole koʻikoʻi kēia ʻano maʻi a koi wale i ka nānā maʻalahi i mea e hōʻalo ai i nā hōʻeha ʻana.

ʻO ke kānana ʻōnaehana ma ka hānau ʻana ka mea hiki, i ka hapanui o nā hihia, e kaohi i ke ʻano o nā hōʻailona maʻamau o ka maʻi.

Hoʻokumu ʻia ka mālama ʻana i ka maʻi ma ka papaʻai papaʻai i loko o ka protein a me ka nānā ʻana i ka phenylalaninemia kōkua pū ʻia e pale i ka hōʻiliʻili o phenylalanine i loko o ke kino a me ka lolo. (2)

I ka hanana ʻaʻole i hana ʻia kahi diagnostical neonatal, ʻike koke ʻia nā ʻōuli o ka phenylketonuria ma hope o ka hānau ʻana a ʻoi aku paha a ʻoi paha ke koʻikoʻi ma muli o ke ʻano o ka maʻi.

Kuhi ʻia kēia mau ʻōuli e:

- kahi lohi i ka ulu ʻana o ka noʻonoʻo o ke keiki;

- kahi lohi i ka ulu ʻana;

- microcephaly (ka liʻiliʻi liʻiliʻi o ka iwi poʻo);

- nā haʻalulu a me nā haʻalulu;

- eczema;

- ka luaʻi;

- nā maʻi behavioral (hyperactivity);

- nā pilikia kaʻa.

I ke kumu o ka hyperphenylalaninemia, hiki ke hoʻololi i ka moʻokūʻauhau i kahi co-factor no ka hoʻololi ʻana i ka phenylalanine i ka tyrosine (co-factor BHA) hiki. ʻO kēia mau haunaele i ka hana ʻana o tyrosine e alakaʻi iā:

- nani ili;

- lauoho lauoho maikaʻi.

ʻO Phenylalanine kahi maʻi hoʻoilina hoʻoilina. ʻO nā hopena i ka hoʻoilina hoʻoilina autosomal. Pili kēia ʻano hoʻoili e pili ana i kahi autosome (non-sexual chromosome) a me ka recessivity i ka pono no ke kumuhana i ʻelua kope o ka allele i hoʻololi ʻia i mea e hoʻomohala ai i ka phenotype maʻi. (4)

ʻO ke kumu o ka maʻi ka hoʻololi ʻana o ka ʻaoʻao PAH (12q22-q24.2). ʻO kēia mau code gen no kahi enzyme e ʻae ana i ka hydrolysis (luku i kahi mea i ka wai): phenylalanine hydroxylase.

No laila ka hopena i hoʻololi ʻia i ka hoʻoliʻiliʻi o ka hana o phenylalanine hydroxylase a no laila ʻaʻole hana maikaʻi ʻia ka phenylalanine mai ka meaʻai. No laila ua hoʻonui ʻia ka pae o kēia amino acid i ke koko o ke kumuhana i hoʻopili ʻia. Ma hope o ka hoʻonui ʻana o kēia nui o ka phenylalanine i loko o ke kino, e mālama ʻia kāna waihona i nā mea ʻokoʻa a me / a i ʻole nā ​​kele, ʻo ia hoʻi i ka lolo. (4)

Ua hōʻike ʻia nā hoʻololi ʻē aʻe i ka pilina me ka maʻi. ʻO kēia nā hoʻololi i ka pae o nā genes e hoʻopili ana iā BHA (co-factor no ka hoʻololi ʻana o phenylalanine i tyrosine) a pili pono hoʻi i ke ʻano o hyperphenylalaninemia. (1)

ʻO nā kumu pilikia e pili ana i ka maʻi he genetic. I ka ʻoiaʻiʻo, hiki ke lawe i kēia maʻi ma o ka hoʻoili recessive autosomal. ʻO kēlā me kēia, ke alo o nā ʻalemela ʻelua i hoʻohuli ʻia no ka ʻāpana e pono ai i loko o ke kanaka e hoʻomohala i ka maʻi.

I kēia ʻano, pono i kēlā me kēia mākua o ka mea maʻi ke kope o ka gen mutated. No ka mea he ʻano recessive ia, ʻaʻole hōʻike nā mākua me hoʻokahi kope o ka gen mutated i nā ʻōuli o ka maʻi. Eia nō naʻe, koi ʻia lākou, a hiki i 50% i kēlā me kēia, i kēlā me kēia e hoʻoili i kahi gen mutated i nā keiki. Inā hoʻouna ka makuakāne a me ka makuahine o ke keiki i kahi ʻāpana i mutated, no laila e loaʻa i ke kumuhana nā ʻelua allel i hoʻololi ʻia a laila hoʻomohala i ka phenotype maʻi. (4)

ʻO ka hōʻailona o phenylketonuria i hana nui ʻia ma o ka papahana loiloi hānau: ʻōnaehana ʻōnaehana ʻōnaehana ʻōnaehana. ʻO kēia ka hoʻāʻo Guthrie.

 Kuhi ʻia kēia hōʻoia inā maikaʻi ke kiʻekiʻe o ka phenylalanine i ke koko ma mua o 3 mg / dl (a i ʻole 180 µmol / l). I loko o ka pōʻaiapili o ka nui phenylalaninemia, hana ʻia kahi lua o ke koko i loko o kahi kikowaena loea e hōʻoia a i ʻole ke alo o phenylketonuria. Inā ʻoi aku ka kiʻekiʻe o ka phenylalanine ma mua o 3 mg / dl i ka manawa o ka lua o ka hana a ʻaʻohe maʻi maʻi ʻē aʻe i ʻike ʻia. (2)

ʻO ke kuhi o kēia maʻi e hoʻokaʻawale ʻia mai ka hemahema o ka BH4. ʻOiai, ʻo ka hope loa kahi ʻano o ka hyperphenylalaninemia a koi wale i ka nānā maʻalahi. ʻOiai ke ʻike ʻia o ke alo o phenylketonuria i ke kumuhana e koi ana i ka lapaʻau kūikawā a me ka papaʻai protein haʻahaʻa. (1)

ʻO ka lāʻau lapaʻau mua loa no ka phenylketonuria no laila he papaʻai haʻahaʻa i ka phenylalanine, ʻo ia hoʻi ka hōʻemi o ka lawe ʻana o ka protein protein. Pono e hoʻokō i kēia papaʻai protein haʻahaʻa ke hana ʻia ka loiloi hānau hou. Pono e ukali ʻia i ke ola holoʻokoʻa a ʻoi aku paha ka ʻoi o ke koʻikoʻi ma muli o ke kumuhana a me ke ʻano o ka maʻi. (2)

Ma waho aʻe o kēia papaʻai i hoʻopau ʻia i ka phenylalanine, hiki ke kuhikuhi ʻia ka sapropterin dihydrochloride i ka mea maʻi i mea ʻoi aku ka paʻakikī o kāna papaʻai, a i ʻole ʻo ka hoʻomau mau ʻana o kāna papaʻai. (2)

Hoʻohui ʻia, ʻai ʻia nā mea hoʻohui meaʻai i loko o nā amino acid (me ka waiho ʻole o ka phenylalanine), nā wikamina a me nā minelala i mea e hoʻihoʻi ai i ke kaulike ʻole i kēia mau ʻai ʻana ma muli o kēia papaʻai. (3)

ʻO ka hoʻohana ʻana i ka aspartame (mea ʻono i hoʻohana ʻia i nā huahana he nui e like me nā mea inu ʻenehana, hoʻomākaukau meaʻai, a me nā mea ʻē aʻe) pono e pale ʻole loa i nā poʻe me ka phenylketonuria. ʻO ka ʻoiaʻiʻo, i ka wā e komo ai, hoʻololi ʻia ka aspartame i ke kino i phenylalanine. Ma kēia manaʻo, hoʻonui i ka hōʻiliʻili ʻana o kēia mole i loko o ke kino a hiki ke lilo i mea ʻona no ka mea maʻi. Aia ʻo Aspartame i nā lāʻau lapaʻau he nui, pono ka nānā kūikawā mai nā mea maʻi i ka wā e lawe ai i kekahi mau lāʻau.

Ma nā ʻōlelo pale, no ka mea he hoʻoilina ka hoʻoili ʻana o ka maʻi, hiki i nā ʻohana i hoʻopilikia ʻia e ka maʻi ke loaʻa ke kōkua a me nā ʻōlelo aʻoaʻo.

He loli ka wānana ma muli o ka mea maʻi a me ke ʻano o ka maʻi.