Maʻi ʻo Hartnup

ʻO ka maʻi Hartnup kahi ʻano kūlohelohe kahi hemahema i ka lawe ʻana i kekahi mau amino acid (e like me tryptophan a me histidine) e ka ʻōpū liʻiliʻi a me nā puʻupaʻa.

ʻO ka maʻi ʻo Hartnup kahi ʻano metabolic e pili ana i nā amino acid. He kūlana hoʻoilina ia. Kū kēia ma muli o ka hoʻololi i ka SLC6A19 ʻāpana Pono i kahi keiki ke hoʻoili i kahi kope o ka ʻāpana hemahema mai nā mākua ʻelua i mea e pilikia nui ai.

Hōʻike pinepine ʻia ke ʻano ma waena o nā makahiki 3 a 9 mau makahiki.

ʻAʻole hōʻike ka hapa nui o nā kānaka i kekahi ʻōuli. Inā kū nā ʻōuli, ʻike pinepine ʻia i ka wā kamaliʻi a hoʻopili pū paha i:

• Pohā
• Hoʻololi ke ʻano
• Nā pilikia o ka ʻōnaehana nervous (neurologic), e like me ke kani ʻole o nā mākala a me nā neʻe ʻole i hoʻohui ʻia
• ʻO ka ʻulaʻula, ʻili a wīwī hoʻi o ka ʻili, maʻamau ke hōʻike ka ʻili i ka lā o ka lā
• ʻIke i ka mālam (photosensitivity)
• Kūlana pōkole

E kauoha ka mea mālama ola i kahi hoʻokolohua mimi e nānā i nā kiʻekiʻe o nā amino acid kūlike ʻole. ʻO nā pae o nā amino acid ʻē aʻe he maʻamau.

Hiki i kāu mea hāʻawi ke hoʻāʻo no ka ʻāpana e kumu ai kēia ʻano. Kauoha ʻia hoʻi nā hoʻokolohua biochemical.

Loaʻa nā mālama iā:

• Ke hōʻalo nei i ka puka ʻana o ka lā e ke kau ʻana i nā kapa pale a me ka hoʻohana ʻana i ka sunscreen me kahi pale o 15 a ʻoi paha
• ʻO ka ʻai ʻana i kahi papaʻai protein kiʻekiʻe
• Lawe i nā mea hoʻopihapiha i piha i ka nicotinamide
• Ke mālama nei i ke olakino olakino noʻonoʻo, e like me ka lawe ʻana i nā antidepressants a i ʻole nā ​​mea hoʻonāukiuki i ka naʻau, inā hoʻololi ke ʻano a me nā pilikia olakino noʻonoʻo ʻē aʻe

Hiki i ka hapanui o nā poʻe me kēia maʻi ke manaʻo e noho i kahi ola maʻamau me ke kīnā ʻole. Kākaʻikahi wale nō, ua hōʻike ʻia no ka maʻi ʻōnaehana koʻikoʻi a hiki i ka make ʻana i nā ʻohana me kēia maʻi.

I ka hapanui o nā hihia, ʻaʻohe pilikia. Hiki ke hoʻopili ʻia i nā pilikia inā loaʻa:

• Hoʻololi i nā kala o ka ʻili mau
• Nā pilikia olakino noʻonoʻo
• Rash
• Nā neʻe hui ʻole

Hiki ke hoʻohuli pinepine ʻia nā ʻōnaehana nervous. Eia nō naʻe, i nā manawa kakaikahi hiki iā lākou ke koʻikoʻi a hoʻoweliweli paha i ke ola.

Kāhea i kāu mea hāʻawi inā loaʻa iā ʻoe nā ʻōuli o kēia ʻano, keu hoʻi inā he moʻolelo ʻohana kou no ka maʻi ʻo Hartnup. Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu o kēia ʻano a ke hoʻolālā nei i kahi hāpai.

ʻO ke aʻo ʻana i nā genetic ma mua o ka male a me ka hāpai ʻana e kōkua i ka pale ʻana i kekahi mau hihia. ʻO ka ʻai ʻana i kahi papa protein kiʻekiʻe e pale i nā hemahema o ka amino acid e kumu ai nā ʻōuli.

Bhutia YD, Ganapathy V. Protein digestion a me ka omo. I: ʻ HMlelo ʻo HM, ed. Physiology o ka Gastrointestinal Tract. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2018: chap 47.

Gibson KM, Momi PL. Nā hewa o loko o ka metabolism a me ka ʻōnaehana. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 91.

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