Maple isifo isiraphu umchamo: isifo ezingavamile eholela iziyaluyalu ezinzima zezinzwa

Izifo Maple isiraphu - kuyinto kofuzo okuyinto ezihambisana iziyaluyalu umzimba ama-amino acid ezifana leucine, isoleucine futhi valine. okuhlushwa yabo nokusaketshezi ngomzimba womuntu inyuka, okubangela elinobuthi, ketoacidosis, Ukudlikizela ngisho equlekile.

indaba

Ngokokuqala ngqá e-izincwadi zezokwelapha ezisekelwe ekwazisweni Maple isiraphu isifo abadala yayibizwa echazwe 1954 udokotela Menkes. It lethiwa ngenxa nephunga engavamile umchamo ezigulini. Abacwaningi olufana ke ushukela wokushiswa noma ukhuni isiraphu. Omunye, igama wezobusayensi ngaphezulu - isifo of acid branched.

Kwenzeka kanye ngemva izinsana eziyikhulu namashumi ayisihlanu nezinkulungwane, ngoba uhlobo ilifa yilesi sakhi - autosomal esikhubazayo. Inzuzo isifo esinzima futhi ngokuvamile kuholela ezingxabanweni nokufa ebuntwaneni.

omsakazo

Ngokuba ukuthuthukiswa sifo kokubili abazali kumelwe babe abathwali isakhi sofuzo esinephutha umsebenzi dehydrogenase-alpha keto acid of branched-chain. Ngokwemvelo, lokhu enzyme ungaphakathi ukudla amaprotheni-ocebile ezifana amaqanda, ubisi, ushizi, inyama, yenkukhu kanye nabanye. Usana eba atsidemiya organic, okuyinto iyingozi kakhulu isimiso sezinzwa.

Maple isifo isiraphu umchamo landile amaJuda, Amish, amaMennonite. Lokhu kungenxa yokuthi bahlala iqembu avaliwe yomphakathi, imishado okungenzeka kakhulu ukuba kwenzeke phakathi kakhulu distantly ahlobene, okusho ukuthi ematfuba khona abazali isakhi sofuzo soguquko lwegciwane singalawuleka obhekene exchange of amino acid inyuka kakhulu.

izimpawu

Ngu ngesonto lesibili emva kokuzalwa kungaba thembeke ukuthola isiraphu isifo maple. Izimpawu ze-non-bendabuko ukuziphatha kwengane: uhlale ukukhala buthule, engadli, futhi ngokuvamile vomits kakhulu, ukuhlanza kungenzeka ngisho. Nge ukuqhubeka lokudakwa avele Ukudlikizela, imisipha ithoni kwandisa. Lokhu kubonakaliswe emzimbeni yengane wadonsa, kunjengokungathi "uzwane emgqeni", lemilenze sawela ngesikhathi emaqakaleni. Kuze ukuthuthukiswa opisthotonos.

Uma abazali bayaqhubeka indiva lesi sifo futhi ungabizi udokotela, esigabeni esilandelayo sifo - ukuhlukumeza ukuphefumula futhi ukwazi. Izingane abavilaphayo, ukuntuleka isinyathelo, iwela stupor bese equlekile. iziyaluyalu kwemizwa, ngisho umphumela omuhle ukuhlala ukuphila. Le mali ongazange esifike ngesikhathi kutholakala ukuthi uphethwe isifo Maple isiraphu. Iziguli ifotho kuyadumaza, futhi ukuthi kudabukisa kakhulu, abaningi kubo okuyizingane okuvezwayo.

Sifo kusekelwe ukuhlaziywa khona umchamo of acid-non-oludakisayo acid, kanye ukubonakaliswa emtholampilo.

ngezigaba

Kuye ukuziyisa phambili izimpawu kanye degree of inertness dehydrogenase kukhona izinhlobo eziningana sifo:

1. Classical. Ngemva nje kokuzalwa komntwana ngokusobala enempilo, nje kwezinsuku ezimbalwa, izimpawu ziqala ukuvela. Okokuqala ukungabi ukudla kanye nokwenqatshwa isifuba ke kwesisindo, nezikhathi yokuphelelwa umoya. Khona-ke clonuses olulodwa bese Ukudlikizela clonic-tonic. It iphela equlekile. umsebenzi enzyme - esingaphansi amaphesenti amabili.
2. Periodic. Lesi sifo akusho ukuzibonakalisa sikhatsi lesingaba tinyanga letisitfupha, ngisho kuze iminyaka ezimbili ezingamaqiniso ekuphileni. Mshini inhlamvu idluliswe yigciwane, lokugoma noma ukwanda ngokweqile inani amaprotheni ku ekudleni. Izimpawu ukuthuthukisa olwengeziwe. umsebenzi enzyme - amaphesenti angu-amabili.
3. Tiaminzavisimaya. Ngo zako emitholampilo efana ifomu odlule. Umehluko ebalulekile wukuthi lisetshenziswe ekwelapheni uvithamini B1, okuyinto iyehlisa lokuhlushwa amino acid e umchamo futhi igazi.

ukwelashwa

Njengoba umuntu ungeniswe esibhedlela esesimweni ubuthi ezinzima ke uqale ukwelapha maple isifo isiraphu umchamo kuyadingeka ukuze ngokukhishwa kobuthi egazini. Ngenxa yale njongo, plasmapheresis, isebenzisa umshini wezinso peritoneal, ukumpontshelwa izingxenye zegazi, kanye diuresis ngenkani hemosorption.

Ngemva sinjalo isiguli aqale ukulungisa iziyaluyalu umzimba. Okokuqala nje kuyinto ukudla nge amaprotheni wokuqukethwe encishisiwe, ngezinye izikhathi ukuncoma kugwenywe ibele. Sikhumbuzo ezinqala ilungelo lokudla kuzosiza ukugwema umonakalo isimiso sezinzwa.

Ubuchwepheshe banamuhla buye avunyelwe cishe ukwelapha isiraphu isifo maple. Isayensi kusikisela futhi nokobana practice izidakamizwa ukuthi esikhundleni acid ezibalulekile acid. Bayoba wokuqhubeka lokugayeka kokudla kuleli uhla evamile, ukugwema ubuthi ngisho ne ukudla okuvamile.

Ngokuhambisana izincomo, futhi ukwelashwa esifike ngesikhathi esibhedlela umuntu angaphila ukuphila ngokugcwele. Ngeshwa, iziyaluyalu zezinzwa ezinganeni ayakhula ngokushesha, kanti abazali abanawo nesikhathi esanele sokuthatha isinyathelo esifanele.