Methylmalonic acidemia

Methylmalonic acidemia chirwere umo muviri usingakwanise kuputsa mamwe mapuroteni nemafuta. Mhedzisiro yacho kuwanda kwechinhu chinonzi methylmalonic acid muropa. Aya mamiriro anopfuudzwa kuburikidza nemhuri.

Icho chimwe chezviitiko zvakati wandei zvinodaidzwa kuti "kuberekwa kuberekwa kwemetabolism."

Chirwere chinowanzoonekwa mugore rekutanga rehupenyu. Iyo autosomal yakawandisa kusagadzikana. Izvi zvinoreva kuti iro rakaremara jeni rinofanirwa kupfuudzwa pamwana kubva kuvabereki vaviri.

Mwana achangoberekwa ane chirwere ichi chisingawanzo kufa anogona kutanga aonekwa. Methylmalonic acidemia inobata vakomana nevasikana zvakaenzana.

Vacheche vanogona kuoneka senguva dzose pakuzvarwa, asi vanokudziridza zviratidzo kana vatanga kudya mapuroteni, izvo zvinogona kukonzera kuti mamiriro acho anyanye. Chirwere ichi chinogona kukonzeresa nekurohwa.

Zviratidzo zvinosanganisira:

• Hosha yehuropi inowedzera (kufambira mberi encephalopathy)
• Kupera mvura mumuviri
• Kukurumidza kunonoka
• Kutadza kubudirira
• Lethargy
• Kufenda
• Kusvipa

Kuedzwa kwemethylmalonic acidemia kunowanzoitwa sechikamu chebvunzo dzekuzvarwa patsva. Dhipatimendi reUnited States reHutano neHuman Services rinokurudzira kuongorora mamiriro ezvinhu aya pakuzvarwa nekuti kuona nekukurumidza kurapwa kunobatsira.

Miedzo inogona kuitwa kuti uongorore mamiriro aya inosanganisira:

• Amoniya bvunzo
• Magasi eropa
• Yakazara kuverenga ropa
• CT scan kana MRI yeuropi
• Electrolyte mazinga
• Kuongorora genetic
• Methylmalonic acid ropa bvunzo
• Plasma amino acid bvunzo

Kurapa kunosanganisira cobalamin uye carnitine zvinowedzera uye yakaderera-protein chikafu. Kudya kwemwana kunofanirwa kunyatso kudzorwa.

Kana zvekuwedzera zvikasabatsira, mupi wezvehutano anogona zvakare kukurudzira kudya kunodzivirira zvinhu zvinonzi isoleucine, threonine, methionine, uye valine.

Chiropa kana itsvo kuisirwa (kana zvese zviri zviviri) zvakaratidzirwa kubatsira vamwe varwere. Izvi zvinopa muviri maseru matsva ayo anobatsira kuputsa methylmalonic acid zvakajairika.

Vacheche vanogona kusapona chikamu chavo chekutanga chezviratidzo kubva kuchirwere ichi. Ivo vanopona vanowanzo kuve nematambudziko nekuvandudzwa kwenzvimbo, kunyangwe zvakajairika kukura kwekuziva kunogona kuitika.

Zvinetso zvinogona kusanganisira:

• Coma
• Rufu
• Itsvo kutadza
• Pancreatitis
• Cardiomyopathy
• Zvirwere zvinowanzoitika
• Hypoglycemia

Tsvaga rubatsiro rwechiremba ipapo ipapo kana mwana wako ari kubatwa kekutanga.

Ona mupi kana mwana wako ane zviratidzo zve:

• Kukundikana-kubudirira
• Kukurumidza kunonoka

Kudya-kweprotein chikafu kunogona kubatsira kudzikisa huwandu hwekurwiswa. Vanhu vane chirwere ichi vanofanirwa kudzivirira avo vari kurwara nezvirwere zvinopararira, zvakaita sefuru uye furuwenza.

Genetic counselling inogona kubatsira kune vakaroorana vane nhoroondo yemhuri yechirwere ichi vanoshuvira kuve nemwana.

Dzimwe nguva, kuwedzerwa kuongororwa kwevana vachangozvarwa kunoitwa pakuzvarwa, kusanganisira kuongorora methylmalonic acidemia. Iwe unogona kubvunza mupi wako kana mwana wako aine kuongorora uku.

Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias uye organic acidemias. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Elsevier; 2017: chits. 37.

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.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.