Maple manyuchi urini chirwere

Maple syrup urine chirwere (MSUD) kusagadzikana uko muviri usingakwanise kuputsa zvimwe zvikamu zveprotein. Weti yevanhu vane chirwere ichi inogona kunhuwa senge maple syrup.

Maple syrup urine chirwere (MSUD) inogarwa nhaka, zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Izvo zvinokonzerwa nehurema mune 1 ye3 magene. Vanhu vane chirwere ichi havagone kupaza amino acids leucine, isoleucine, uye valine. Izvi zvinotungamira mukuwanda kwemakemikari aya muropa.

Mune fomu yakaoma kwazvo, MSUD inogona kukuvadza huropi panguva yekushushikana kwemuviri (senge hutachiona, kupisa muviri, kana kusadya kwenguva yakareba).

Dzimwe mhando dzeMSUD dzakapfava kana kuuya uye kuenda. Kunyangwe iri fomu yakapfava, kudzokororwa kwenguva yekushushikana kwemuviri kunogona kukonzera kuremara kwepfungwa uye huwandu hweleucine kuvaka.

Zviratidzo zvechirwere ichi zvinosanganisira:

• Coma
• Kudyisa matambudziko
• Lethargy
• Kufenda
• Weti inonhuwa kunge mapira manyuchi
• Kusvipa

Iyi bvunzo inogona kuitwa kuti utarise chirwere ichi:

• Plasma amino acid bvunzo
• Weti organic organic asidi bvunzo
• Kuongorora genetic

Pachave nezviratidzo zve ketosis (kuwanda kwemaketone, ne-chigadzirwa chemafuta anopisa) uye yakawandisa acid muropa (acidosis).

Kana mamiriro acho akaonekwa, uye panguva dzezvikamu, kurapwa kunosanganisira kudya chikafu chisina mapuroteni. Mvura, shuga, uye dzimwe nguva mafuta anopiwa kuburikidza nemutsinga (IV). Dialysis kuburikidza nedumbu rako kana mutsinga zvinogona kuitwa kudzikisa huwandu hwezvinhu zvisina kujairika muropa rako.

Kurapa kwenguva refu kunoda chikafu chakakosha. Kune vacheche, chikafu chinosanganisira fomula ine yakaderera masosi eamino acids leucine, isoleucine, uye valine. Vanhu vane chirwere ichi vanofanirwa kuramba vari pakudya kwakaderera mune aya maamino acids kwehupenyu hwese.

Izvo zvakakosha kuti ugare uchitevera chikafu ichi kudzivirira hushamwari system (neurological) kukuvara. Izvi zvinoda kuongororwa kwakawanda kweropa uye kutarisirwa padyo nachiremba akanyoreswa uye chiremba, pamwe nekushandira pamwe kwevabereki vevana vane chirwere ichi.

Ichi chirwere chinogona kutyisidzira hupenyu kana chisina kurapwa.

Kunyangwe nekurapa kwekudya, zvinonetsa mamiriro uye kurwara zvinogona kukwirisa huwandu hwakawanda hwemamwe amino acids. Rufu runogona kuitika panguva dzezvikamu izvi. Nekurapwa kwakasimba kwekudya, vana vakura kuva vanhu vakuru uye vanogona kuramba vaine hutano.

Aya matambudziko anogona kuitika:

• Neurological kukuvara
• Coma
• Rufu
• Kuremara kwepfungwa

Fonera wako mupi wehutano kana iwe uine nhoroondo yemhuri yeMSUD uye uri kuronga kutanga mhuri. Zvakare daidza wako mupi ipapo ipapo kana iwe uine mwana achangozvarwa ane zviratidzo zve maple syrup urine chirwere.

Genetic counselling inokurudzirwa kune vanhu vanoda kuve nevana uye vane nhoroondo yemhuri ye maple syrup urine chirwere. Nyika zhinji ikozvino dzinoongorora vacheche vese nekuongororwa kweropa kweMSUD.

Kana ongororo yekuongorora ichiratidza kuti mwana wako anogona kunge aine MSUD, kuongororwa kweropa kwekutevera kwemazinga eamino acid kunofanirwa kuitwa ipapo ipapo kuratidza chirwere.

MSUD

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Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism yemamino acids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.

Merritt JL, Gallagher RC. Inborn zvikanganiso zvehydrohydrate, ammonia, amino acid, uye organic organic metabolism. Mune: Gleason CA, Juul SE, eds. Zvirwere zveAvery zveMucheche. 10th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 22.