Phenylketonuria - He aha ia mea, a pehea e noho ana me ia

Kēia maʻi ua pili me kaʻole pūnao o ka'amino nāʻakika. Ma pakahi, phenylalanine. E like me ka hopena o kāna hana huli reactions o keia'aminoʻakika i kekahi (tyrosine) no ka makemake'ūhū deficiency ia a me konaʻawahia huahana (phenyl ketone) loaa i loko o ke kino. Ka mea, i ka io ia, ka oi aku ma luna o ka'emi ko kahua. Literally unuhi mai i ka Roma - "i ke alo o ka phenyl ketone i loko o ka mimi" - i ka mea ai ka manawa "phenylketonuria". He aha ka keia metabolic kāna hana, ka mea, ua manawa akaka, a me ke kumu o ka pilikia moe i loko o ka aaiaoe anomaly. Ua Ua pū i hiki i ka autosomal recessive ano.

Pehea e holo ai ka pathology

Inā ke kanaka he kina ma ka'ōewe kuleana no ka hoʻololi kemikala o ka makemake'ūhū, he mea phenylketonuria. He aha ke ano o keia, ua maopopo mākou. I ka wā i keiaʻike,? Ka maʻi apparently, aole i hoike mai ai ia ia iho, mahope koke iho o ka hanau ana, na keiki pono e e loa ai maʻamau, i hanau ma ka manawa a me ka maʻamau? Acaeoey. Eia naʻe, ma hope (i loko o 2-6 mahina) symptoms hōʻike:

• ka backlog o ke kino a me ka noʻonoʻo ulu ana;
• sweating ka ikaika a me ke alo o ke ano o ka "iole" hohono o ke keiki;
• irritability, tearfulness;
• drowsiness paha lethargy;
• convulsions
• Ua hiki e ka luaʻi.

Nō hoʻi, keʻano o ka ili lesions (dermatitis, eczema) ua hoike mai phenylketonuria. He aha oia mea, a pehea ia mau helehelena e like me ka hoomanawanui, ka mea, hoi akaka, akā, i kēia mau symptoms mea i ho'ākāka 'ia - na mea he nui mai, i loaaʻi ia oukou i' ano like symptoms.

Pehea e kuhikuhi i ka maʻi

Inā ke Kauka manao i ka maʻi ma muli o lapaʻau hoailona, ka mea, ua häʻawi mai i kekahi ka nui o ka phenylalanine i loko o ke koko.

¶ A i loko o ka 'inikua hale kipi mimi hāpana, phenylketonuria hiki pela ke diagnosed me 10-12 lā o ka makahiki. Ano ka haukapilaʻo no 3-4 lā, mai ka hanau ana mai o kou bebe pana aku au i kekahi loiloi e ho'āʻo ai i ka hōʻike kekahi metabolic kāna hana. Ka hoao ana no keia pathology mea kekahi o ia mau mea. I ka maʻi ua pinepine diagnosed phenylketonuria, hoʻokahi keiki i ka 8,000 ua hanau me kēia pilikia. Available ano o kaʻike, a me ka aaiaoe mai: ka loaʻaʻana o mutations ma ka like'ōewe.

Pehea e hoola i ke ahonui

Ua maopopo i ka aaiaoe maʻi pili maʻi e like me phenylketonuria. He aha aʻole ia ke ano o? Aia he mau aoao o ka Inc kanaka me ka ili deficiency o ka'ūhū: e lawe mai i ka hala i loko o ke kino H ke hoʻokoe 'ia mai i kaʻai no ka huahana a no ka digestion, kaʻaluna, waena pūnao he pono keia'ūhū. Ma ka hihia o keia maʻi ma ka hope mana. E hoomanawanui i pololei kaupalenaʻai ana o ka phenylalanine mai ai. Kēia E e hana i kakahiaka nui i hiki ke pale aku irreversible lolo intoxication. No kaʻai hoʻohana kuikawa kumuʻiʻo ukuhiia me phenylalanine, e compensate no ka nele o nā polokina.

Ulu a me kāu kiʻina hana o ka hana ma luna o kaʻokoʻa ala - i ka hoike o ke pani nō hoʻi'ūhū. I ho'āʻo kēia aaiaoe Inc iaoia: ka'ōewe ke kaōhiʻana i ka? Iecaianoaaiiie o ke koa wiwoʻole'ūhū i hoʻolaunaʻia ma.