Methylmalonic acidemia

ʻO ka Methylmalonic acidemia kahi maʻi i hiki ʻole i ke kino ke haki i kekahi mau protein a me nā momona. ʻO ka hopena he buildup o kahi mea i kapa ʻia ʻo ka methylmalonic acid i ke koko. Ua hala kēia ʻano i loko o nā ʻohana.

ʻO ia kekahi o nā ʻano i kapa ʻia he "hewa i loko o ka metabolism."

Hoʻomaopopo pinepine ʻia ka maʻi i ka makahiki mua o ke ola. He maʻi kūmau autosomal ia. ʻO ke kumu o kēia e hoʻoili ʻia ka ʻāpana hemahema i ke keiki mai nā mākua ʻelua.

E make paha kahi keiki hānau hou me kēia ʻano laha ʻole ma mua o ka hōʻoia ʻana. Hoʻopili like ka Methylmalonic acidemia i nā keikikāne a me nā kaikamahine.

Pēlā paha ke ʻano maʻamau o nā pēpē i ka wā hānau, akā hoʻomohala i nā ʻōuli ke hoʻomaka lākou e ʻai i nā protein ʻē aʻe, a he mea ia e ʻino ai ke ʻano. Hiki i ka maʻi ke hana i ke kuʻi a me ka hahau.

ʻO nā hōʻailona me:

• ʻO ka maʻi lolo e ʻoi aku ka hewa (holomua encephalopathy)
• Make wai
• Hoʻolālā hoʻomohala
• Ka holomua ʻole ʻana
• Lethargy
• Ka hopu ʻana i nā maʻi
• ʻO ka luaʻi

Hana pinepine ʻia ka hoʻāʻo ʻana no ka methylmalonic acidemia ma ke ʻano he ʻāpana o kahi hōʻike loiloi hou. Paipai ke Keʻena ʻOihana Ola a me nā lawelawe kaiāulu o ʻAmelika Hui Pū ʻIa i ka kānana ʻana no kēia ʻano ma ka hānau ʻana no ka mea he kōkua ka ʻike mua a me ka mālama ʻana.

Nā hoʻokolohua e hana ʻia ai e kuhikuhi i kēia ʻano me:

• Hōʻike Amonia
• Nā kinoea koko
• Helu piha koko
• CT scan a MRI paha o ka lolo
• Nā pae uila
• Ke hoʻāʻo genetic
• Hōʻike koko Methylmalonic acid
• ʻO ka hoʻāʻo ʻana o ka amino acid Plasma

ʻO ka mālama ʻana me nā cobalamin a me nā mea hoʻopili carnitine a me kahi papaʻai protein haʻahaʻa. Pono e kāohi pono i ka papaʻai o ke keiki.

Inā kōkua ʻole nā ​​mea hoʻopili, e ʻōlelo paha ka mea mālama ola i kahi papaʻai e hōʻalo ai i nā mea i kapa ʻia ʻo isoleucine, threonine, methionine, a me valine.

Ua hōʻike ʻia ke kuʻina ate a i ʻole nā ​​puʻupaʻa (a i ʻole ʻelua) e kōkua i kekahi mau mea maʻi. Hāʻawi kēia mau transplants i ke kino me nā hunaola hou e kōkua ai i ka haʻihaʻi methylmalonic acid maʻamau.

ʻAʻole ola nā pēpē i kā lākou hanana mua o nā hōʻailona mai kēia maʻi. ʻO nā mea i ola pinepine i nā pilikia me ka hoʻomohala ʻana o ka ʻōnaehana ʻōnaehana, ʻoiai e hiki ke ulu i ka hoʻomohala ʻike maʻamau.

Komo pū nā pilikia:

• Koma
• Make
• Hewa ʻole nā ​​hakuʻala
• ʻO Pancreatitis
• Cardiomyopathy
• Nā maʻi hou
• Hypoglycemia

E ʻimi koke i ke kōkua lapaʻau inā loaʻa ka hopu ʻana i kāu keiki no ka manawa mua.

E ʻike i kahi mea hāʻawi inā loaʻa kāu keiki i nā hōʻailona o:

• Hoka-i-holomua
• Hoʻolālā hoʻomohala

Hiki i kahi papaʻai protein haʻahaʻa ke kōkua i ka hōʻemi ʻana i ka helu o nā hoʻouka ʻana. Pono nā kānaka me kēia ʻano e hōʻalo i ka poʻe maʻi me nā maʻi lele, e like me ke anu a me ka maʻi palū.

He mea kōkua paha ke ʻōlelo aʻo kūlohelohe no nā kāne me ka moʻolelo ʻohana o kēia maʻi i makemake e hānau pēpē.

I kekahi manawa, hoʻonui ʻia ka kānana hānau hou ma ka hānau ʻana, me ke kānana ʻana no ka methylmalonic acidemia. Hiki iā ʻoe ke nīnau i kāu mea hāʻawi inā loaʻa kāu keiki i kēia kānana.

ʻO Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias a me nā acidemias meaola. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology. ʻElua huaʻōlelo Elsevier; 2017: chap 37.

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, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.