Maple isifo isiraphu umchamo: isifo esinqabileyo ekhokelela ukuphazamiseka kakhulu luvo

Disease maple isiraphu - yinto sifo nto leyo ehambisana nokuphazamiseka pathways ye asidi acid ezifana leucine, isoleucine kunye valine. ingqalelo kule ulwelo na ukunyuka umzimba womntu, ibangela yityhefu, ketoacidosis, unditsho kunye isiqaqa.

indaba

Kuba okokuqala kule ncwadi zonyango isifo maple isiraphu abadala oko kuchazwa 1954 ngugqirha Menkes. Got igama layo ngenxa livumba bokuhlala umchamo kwizigulane. Abaphandi wakhangela enjengayo iswekile elinyukayo okanye isiraphu iinkuni. Enye, igama nzululwazi - sisifo asidi branched.

Oku kwenzeka kanye ezilikhulu elinamashumi amahlanu amawaka zonke ezisanda kuzalwa, ngenxa yokuba uhlobo ilifa le sofuzo - autosomal sofuzo. Ingeniso isifo nzima yaye kudla ngokuphumela sekufeni ebuntwaneni.

umyalezo weimeyile

Kuba uphuhliso sifo bobabini abazali kufuneka babe abathwali sofuzo nesiphene ngomsebenzi dehydrogenase alpha nee-asidi of branched-chain. Kwindalo, le enzyme ekutyeni leeprothini-rich ezifana amaqanda, ubisi, itshizi, inyama, inyama yenkukhu, nabanye. Usana iphuhlisa atsidemiya eziphilayo, nto leyo eyingozi kakhulu luvo.

Maple isifo isiraphu umchamo ixhaphake kakhulu amaYuda, Amish, ngamaMennonite. Oku kungenxa yokuba siphila iqela loluntu lavalwa, kunye imitshato kakhulu ukuba kwenzeke phakathi distantly kakhulu ezinxulumene, nto leyo ithetha ukuba amathuba phambi abazali zofuzo mutated uxanduva ngokutshintshiselana acid asidi ukunyuka kakhulu.

iimpawu

Kwiveki yesibini emva zokuzalwa ngokuthembekileyo awayiboni isiraphu maple sifo. Iimpawu non-yemveli yokuziphatha komntwana: yena usoloko ekhala ngokuzola, engatyi, yaye ngokufuthi vomits kakhulu, ukugabha ukuze zibe khona. Ngenxa yenkqubela kunxilwe kuvela unditsho, kwezihlunu kwandisa. Oku kuboniswa ngomzimba womntwana uza kuncothulwa, ngokungathi kunjalo, 'toe komgca ", imilenze bawela kwi kwamaqatha. De kuphuhliso opisthotonos.

Ukuba abazali bayaqhubeka ngoyaba sifo yaye musa ukubiza ugqirha, isigaba esilandelayo isifo - ephula zokuphefumla seengcamango. Abantwana ningadangali, ukungabikho linge, kweyela ngalala uze isiqaqa. zizigulo zemithambo, nkqu yabaneziphumo ezihle kuhlala ubomi. Le mali engakhange ngexesha ngoxilongo isiraphu maple sifo. Izigulane Amafoto ngokuphoxa, baze abona ebuhlungu, inkoliso yabo bantwana zime.

Uxilongo isekelwe phezu uhlalutyo ubukho kwi umchamo ye asidi non-enegwele acid, kwakunye wabonakala lwezonyango.

ngezigaba

Ngokuxhomekeka kubungakanani iimpawu kunye neqondo inertness dehydrogenase iindlela ezininzi sifo:

1. Classical. Kungekudala emva kokuzalwa komntwana kubonakala ukuba usempilweni, nje iintsuku ezimbalwa, iimpawu ziqala ukubonakala. Kuqala ke ukungabi namdla kunye ukwaliwa nencum, ngoko ukwehla kobunzima, amaxesha umoya. Ke clonuses abangatshatanga kunye koko unditsho clonic-tonic. Siphela isiqaqa. umsebenzi enzyme - ngaphantsi kwe pesenti ezimbini.
2. Periodic. Isifo akuthethi ukuzibonakalisa ukuya kwiinyanga ezintandathu, kwaye nkqu ukuya kwiminyaka emibini yobomi. Isixhobo aqala idluliselwa igciwane okanye wentsholongwane egazini, ugonyo okanye ukwanda kakhulu kwi umlinganiselo iiprothini ekutyeni. Iimpawu ukuphuhlisa nangakumbi. umsebenzi enzyme - up to amabini ekhulwini.
3. Tiaminzavisimaya. Xa obubonakala lwezonyango efanayo kwifom elidlulileyo. Umahluko ebalulekileyo kukuba kusetyenziswa unyango lwe vitamin B1, leyo kunciphisa kakhulu lwee- acid Umchamo negazi.

unyango

Ekubeni umntu amkelwe esibhedlele kwimo yityhefu kakhulu, ngoko ukuqala ukunyanga maple isifo isiraphu umchamo kuyimfuneko ukuba ubuthi. Ukulungiselela le njongo, plasmapheresis, dialysis peritoneal, ukutofelwa amacandelo igazi, kwakunye diuresis ngenkani hemosorption.

Emva nokuzinziswa isigulane aqale ukulungisa iingxaki metabolic. Okokuqala kukho ukutya kunye protein yancitshiswa, ngamanye amaxesha bacebisa ukuphepha lokuncancisa. ukugcinwa okungqongqo ilungelo lokufumana ukutya kuya kunceda ukuba omnye umonakalo luvo.

zobugcisa zale mihla uvumele phantse banokunyanga isiraphu maple sifo. Science iphakamisa kwaye baphumeza iziyobisi practice ukuba ithatha indawo asidi kubalulekile acid. Baya ukugcina umgangatho yokucolwa kuluhlu eqhelekileyo, uphambuke ezintethweni ityhefu nkqu ukutya eqhelekileyo.

Ukungqinelana kunye nezindululo, kunye nonyango ngexesha esibhedlele umntu Usenokuphila ubomi obupheleleyo. Ngelishwa, iingxaki zezivamvo xa abantwana olukhula ngokukhawuleza, kwaye abazali abanalo ixesha lokuthatha amanyathelo afanelekileyo.