Homocystinuria

Homocystinuria yog lub caj ces cuam tshuam rau cov metabolism ntawm cov amino acid methionine. Amino kua qaub yog lub tsev ntawm lub neej.

Homocystinuria tau txais los ntawm cov tsev neeg raws li kev muaj tus xeeb ceem ntawm lub cev ntaj ntsug. Qhov no txhais tau hais tias tus me nyuam yuav tsum tau txais ib daim ntawv theej tsis ua haujlwm ntawm ib tus niam los sis niam txiv tau cuam tshuam loj heev.

Homocystinuria muaj ntau lub cev sib xws nrog Marfan syndrome, suav nrog kev hloov pob txha thiab qhov muag.

Menyuam mos liab pom kev noj qab nyob zoo. Cov tsos mob thaum ntxov, yog tias pom, tsis pom tseeb.

Cov tsos mob tej zaum yuav tshwm sim tshwm sim me me ncua kev txhim kho lossis tsis ua tiav. Cov teeb meem pom tseeb tuaj yeem coj mus rau kev kuaj mob ntawm tus mob no.

Lwm cov tsos mob muaj xws li:

• Hauv siab deformities (pectus carinatum, pectus excavatum)
• Qaws thoob ob sab plhu
• High arches ntawm ob txhais taw
• Kev txawj ntse
• Khob hauv caug
• Ntev ceg ntev
• Mob hlwb
• Nearsightedness
• Spidery ntiv tes (arachnodactyly)
• Siab siab, nyias nyias tsim

Tus kws saib xyuas kev noj qab haus huv tuaj yeem pom tias tus menyuam loj thiab nyias.

Lwm yam paib muaj xws li:

• Tus txha nqaj nkhaus (scoliosis)
• Kev tsis haum ntawm lub hauv siab
• Lub cev tsis sib haum ntawm lub qhov muag

Yog tias muaj qhov tsis zoo lossis ob lub zeem muag, kws kho qhov muag (kws kho qhov muag) yuav kuaj lub qhov muag kom pom qhov cuam tshuam ntawm lub lens lossis lub ntsej muag pom.

Tej zaum yuav muaj keeb kwm ntshav txhaws. Cov neeg muaj mob xiam hlwb los sis kev mob hlwb tseem muaj peev xwm.

Kev ntsuam xyuas uas yuav raug txiav txim suav nrog ib qho ntawm cov hauv qab no:

• Amino acid screen ntawm ntshav thiab zis
• Kev tshuaj ntsuam caj ces
• Siv tshuaj kho mob rau daim siab thiab ua kom muaj enzyme
• Skeletal x-ray
• Nqaij tawv me nrog cov nqaij tsiaj ua rau tawv nqaij
• Tus txheem ophthalmic kuaj

Tsis muaj ib txoj kev kho rau homocystinuria. Kwv yees li ib nrab ntawm cov tib neeg uas muaj tus kab mob teb rau cov vitamin B6 (tseem hu ua pyridoxine).

Cov uas tau teb yuav tau noj cov tshuaj B6, B9 (folate), thiab B12 ntxiv rau lawv lub neej tag nrho. Cov uas tsis teb rau kev pabcuam ntxiv yuav tsum noj zaubmov kom muaj mentsis. Feem ntau yuav tsum tau kho nrog trimethylglycine (ib yam tshuaj uas tseem hu ua betaine).

Tsis muaj qhov tsis tshua muaj methionine noj haus lossis tsis siv tshuaj yuav txhim kho cov kev tsis taus zoo uas twb muaj lawm. Cov tshuaj thiab kev noj haus yuav tsum tau saib zoo los ntawm kws kho mob uas tau ua haujlwm kho homocystinuria.

Cov peev txheej no tuaj yeem muab cov ntaub ntawv qhia ntxiv txog homocystinuria:

• HCU Network America - hcunetworkamerica.org
• NIH / NLM Genetics Hauv Tsev Hais Txog - ghr.nlm.nih.gov/condition/homocystinuria

Txawm hais tias tsis muaj kev kho kom zoo rau homocystinuria, kev kho vitamin B tuaj yeem pab txog ib nrab ntawm cov neeg cuam tshuam los ntawm tus mob no.

Yog tias kev kuaj mob tau tshwm sim hauv menyuam yaus, pib noj cov zaub mov methionine tsawg sai yuav tiv thaiv qee qhov kev xiam oob khab thiab lwm yam mob ntawm tus kab mob. Vim li no, qee lub xeev soj ntsuam rau homocystinuria hauv txhua tus menyuam tshiab.

Cov neeg uas cov ntshav homocysteine ​​ntau zuj zus yuav muaj feem yuav muaj feem ntshav txhaws. Cov kab mob txhaws tuaj yeem ua rau muaj mob loj thiab ua rau txo lub neej ntev dua.

Cov teeb meem nyhav feem ntau tshwm sim vim cov ntshav txhaws. Lub sijhawm ntu no tuaj yeem tsim kev tuag taus.

Cov lo ntsiab muag uas tsis pom ntawm lub qhov muag tuaj yeem cuam tshuam qhov tsis pom kev zoo. Tej zaum yuav xav tau phais lub lens.

Kev muaj mob kev txawj ntse yog qhov tshwm sim hnyav ntawm tus kab mob. Tab sis, nws tuaj yeem txo qis yog hais tias kuaj tau ntxov.

Hu rau koj tus kws kho mob yog tias koj lossis ib tus neeg hauv koj tsev neeg muaj cov tsos mob ntawm qhov tsis zoo no, tshwj xeeb yog tias koj muaj tsev neeg muaj keeb kwm ntawm homocystinuria.

Kev qhuab ntuas caj yog pom zoo rau cov neeg uas muaj keeb kwm tsev neeg homocystinuria uas xav muaj menyuam. Kev kuaj cev xeeb tub ntawm homocystinuria yog muaj. Qhov no suav nrog kev kuaj cov hlwb amniotic lossis cov chorionic villi txhawm rau sim rau cystathionine synthase (cov enzyme uas ploj lawm hauv homocystinuria).

Yog tias muaj kev paub txog cov kab mob hauv cov niam txiv lossis tsev neeg, cov piv txwv ntawm chorionic villus sampling lossis amniocentesis tuaj yeem siv los ntsuas cov kev tsis zoo no.

Cystathionine beta-synthase tsis muaj peev xwm; CBS tsis muaj peev xwm; HCY

• Pectus excavatum

Schiff M, Blom H. Homocystinuria thiab hyperhomocysteinemia. Hauv: Goldman L, Schafer AI, eds. Goldman-Cecil Tshuaj. 26th ed. Philadelphia, PA: Elsevier Saunders; 2020: cha 198.

Shchelochkov OA, Venditti CP. Methionine. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 103.3.