Phenylketonuria

ʻO Phenylketonuria (PKU) kahi ʻano maʻamau kahi i hānau ʻia ai kahi pēpē me ka ʻole o ka hiki ke wāwahi pono i kahi amino acid i kapa ʻia ʻo phenylalanine.

Phenylketonuria (PKU) hoʻoilina, ʻo ia hoʻi ua hoʻoili ʻia i waena o nā ʻohana. Pono nā mākua ʻelua e hoʻohele i kahi kope hana ʻole o ka ʻaoʻao i mea e loaʻa ai i ka pēpē ke ʻano. Keia ka hihia, loaʻa i kā lākou poʻe keiki ka 1 i ka 4 manawa o ka hoʻopilikia ʻia.

Nalo nā pēpē me PKU i kahi enzyme i kapa ʻia ʻo phenylalanine hydroxylase. Pono ia e wāwahi i ka amino acid phenylalanine pono. Loaʻa ʻo Phenylalanine i nā meaʻai i loaʻa ka protein.

Me ka ʻole o ka enzyme, kūkulu nā pae o ka phenylalanine i ke kino. Hiki i kēia kūkulu ʻana ke hōʻeha i ke kikowaena pūnaewele a hoʻolilo i nā lolo i nā lolo.

He mea nui ʻo Phenylalanine i ka hana ʻana o ke kino o melanin. ʻO ke kala ka kuleana no ka ʻili a me ka lauoho. No laila, ʻo nā pēpē me ke ʻano pinepine ka ʻili o ka ʻili, ka lauoho, a me nā maka ma mua o nā kaikaina a me nā kaikuahine ʻole me ka maʻi ʻole.

Hiki i nā ʻōuli ʻē aʻe ke:

• Hoʻolālā nā mākau noʻonoʻo a me ka pilikanaka
• ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau
• Hyperactivity
• ʻO ka neʻe ʻana o ka lima a me ka wāwae
• Ka manaʻo kīnā ʻole
• Ka hopu ʻana i nā maʻi
• Huʻi ʻili
• Nā haʻalulu

Inā mālama ʻole ʻia ʻo PKU, a inā ʻai ʻia nā meaʻai i loko o ka phenylalanine, loaʻa paha i ka hanu, ʻili, wili pepeiao, a me ka mimi kahi "mousy" a i ʻole "musty" ʻaʻala. ʻO kēia pilau ma muli o ke kūkulu ʻana o nā mea phenylalanine i ke kino.

Hiki ke ʻike maʻalahi ʻia ka PKU me kahi hōʻike koko maʻalahi. Koi ʻia nā mokuʻāina a pau i ʻAmelika Hui Pū ʻIa i kahi hōʻike loiloi PKU no nā keiki hānau hou ma ke ʻano he ʻāpana o ka paneli loiloi hou. Hana ʻia ka hōʻoia ma ka lawe ʻana i kekahi mau kulu koko mai ka pēpē ma mua o ka haʻalele ʻana o ka pēpē i ka haukapila.

Inā maikaʻi ka hoʻāʻo ʻana, koi ʻia nā hōʻike koko a me nā mimi hou aku e hōʻoia i ke kuhi. Hana ʻia hoʻi ka hoʻāʻo genetic.

He maʻi hiki ke mālama ʻia ʻo PKU. Hoʻopilikia ka mālama ʻana i kahi papaʻai i haʻahaʻa loa i ka phenylalanine, ʻoiai ke ulu nei ke keiki. Pono e mālama pono i ka papaʻai. Pono kēia i ka nānā kokoke ʻana e kahi kahu hānai a mea kauka i hoʻopaʻa inoa ʻia, a me ka laulima ʻana o ka makua a me ke keiki. ʻO ka poʻe e hoʻomau i ka papaʻai i ka wā makua e ʻoi aku ka maikaʻi o ke olakino a me ka noʻonoʻo ma mua o ka poʻe e noho ʻole ma luna. Ua lilo ka "papaʻai no ke ola" i ka mea maʻamau a ka poʻe loea e paipai ai. Pono nā wahine i loaʻa iā PKU e hāhai i ka papaʻai ma mua o ka hapai ʻana a me ka hāpai ʻana.

Nui ka nui o ka phenylalanine i ka waiū, nā hua manu, a me nā meaʻai like ʻole. Loaʻa i ka mea ʻono NutraSweet (aspartame) ka phenylalanine. Pono e hōʻalo i nā huahana i loaʻa ka aspartame.

Nui a hewahewa nā kaʻina hana i hana ʻia no nā pēpē me PKU. Hiki ke hoʻohana ʻia kēia mau mea ma ke ʻano he kumu protein i haʻahaʻa loa i ka phenylalanine a kaulike ʻia no nā amino acid i koe. Hoʻohana nā keiki makua a me nā mākua i kekahi ʻano hana e hāʻawi i ka protein i ka nui a lākou e pono ai. Pono nā poʻe me PKU e lawe i ka lālau i kēlā me kēia lā no ko lākou ola holoʻokoʻa.

Manaʻo ʻia he maikaʻi loa ka hopena inā e ukali pono ʻia ka papaʻai, e hoʻomaka ana ma hope koke iho o ka hānau ʻana o ke keiki. Inā hoʻolohi ʻia ka lapaʻau a hoʻomau ʻole ʻia paha ke ʻano, e hōʻeha ka lolo. Hewa ʻino paha ka hana ʻana o ke kula.

Inā hōʻole ʻole ʻia nā protein i loaʻa ka phenylalanine, hiki i ka PKU ke alakaʻi i ke kīnā ʻole o ka noʻonoʻo ma ka hopena o ka makahiki mua o ke ola.

Hana ʻia ke kīnā ʻole koʻikoʻi inā ʻaʻole mālama ʻia ka maʻi. ʻO ADHD (maʻi hyperactivity deficit attention-deficit) he pilikia maʻamau ia i ka poʻe pili ʻole i ka papaʻai phenylalanine haʻahaʻa loa.

Kāhea i kāu kahu mālama ola inā ʻaʻole i hōʻike ʻia kāu pēpē no PKU. He mea nui kēia inā loaʻa kekahi i kou ʻohana i ka maʻi.

Hiki i ka hoʻāʻo ʻana o ka enzyme a i ʻole ka hoʻāʻo genetic ke hoʻoholo inā lawe nā mākua i ka ʻāpana no PKU. Hiki ke hana ʻia ka Chorionic villus sampling a i ʻole amniocentesis i ka wā hāpai e hoʻāʻo i ka pēpē i hānau ʻole ʻia no PKU.

He mea nui i nā wahine me PKU e ukali pono i kahi papa haʻahaʻa phenylalanine haʻahaʻa ma mua o ka hāpai ʻana a me ka hāpai ʻana. ʻO ka buildup o phenylalanine e hōʻino i ka pēpē e ulu ana, ʻoiai inā ʻaʻole i hoʻoilina ke keiki i ka maʻi piha.

PKU; Phenylketonuria Neonatal

• Hōʻike ʻo Phenylketonuria
• Ke hoʻāʻo loiloi hou ʻana

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā o ka metabolism o nā amino acid. I: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.

Kumar V, Abbas AK, Aster JC. Nā maʻi genetic a me nā pediatric. I: Kumar V, Abbas AK, Aster JC, eds. ʻO Robins Basic Pathology. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 7.

Vockley J, Andersson HC, Antshel KM, et al; Ke KulanuiʻAmelika o nā Genetics Medical a me Genomics Therapeutics Committee. Ka nele o Phenylalanine hydroxylase: ka hōʻoia a me ke alakaʻi alakaʻi. ʻO Genet Med. 2014; 16 (2): 188-200. PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.