Nu leh pa i nih angin i fa tê hrisêlna chu i ngaihtuah a ni mai thei. A châng chuan kan hriat ngai loh thil awm lo tak takte i hriat hian hlauhna tlem tal i neih hi thil pangngai a ni. Awle, vawiinah hian mi tam takin an hriat ngai loh, mahse hriat a pawimawh em em, thil awm lo tak kan sawi dawn a ni. A hming chu Homocystinuria a ni.
A awlsam zawngin, Homocystinuria (HCY) hi eng nge ni?
Ngaihtuah teh, kan ei tûr, a bîk takin sa, sangha, bawnghnute, leh artuiah hian protein a awm tih kan hria a ni . He protein lian tak hi amino acid an tih chi te te atanga siam a ni . Building block ang maiin. Mi hrisel taksa chhungah hian heng amino acids te hi a chhe vek a, a hmin a, kan taksa mamawh chakna a lo ni ta a ni.
Mahse, Homocystinuria (HCY) vei tan chuan taksa hian amino acid methionine an tih chu a ti chhe thei lo va, a ei thei lo bawk. Hei hi metabolic disorder an ti a. Chutiang a lo thlen chuan he methionine leh a atanga lo piang chemical dang homocysteine an tih te chu taksaah, a bik takin thisenah a lo awm khawm tan thin. He accumulation hi a hlauhawm hle. Enkawl loh chuan hei hian hriselna lama harsatna lian tak a thlen thei a ni.
Engvangin nge hetiang hi a lo awm? Hei hi eng nge a chhan?
Kan taksaa enzyme bik pakhat hian he amino acid methionine an tih hi a ti chhe thei a ni. He enzyme hi scissors pahnih angin han ngaihtuah teh. Heng scissors te hian methionine an tih thil lian tak chu a te tein an tan a.
Homocystinuria veiah chuan he enzyme (scissors) hi taksaah a siam chhuak lo a, a siam chhuah chuan a thawk tha lo.
A pawimawh ber chu hei hi rochun natna a ni . Chu chu thlah kal zelah a kal zel tihna a ni. He enzyme siam dan tur hi gene pahnih a awm a. Pakhat chu i nu hnen atanga rochun a ni tur a ni a, pakhat chu i pa hnen atanga rochun a ni tur a ni. Homocystinuria a lo awm theih nan chuan i nu leh pa atanga i rochun gene pahnih ah hian chhiatna a awm a ngai a ni.
Eng symptom nge kan hmuh theih?
Mak tak maiin Homocystinuria vei nausen piang i en chuan danglamna a awm lo. Nausen pangngai tak tak an ni. Natna kum engemaw zat chhungin natna lan chhuah dan a lo lang tan thin. Naupang zawng zawng hian heng symptoms hi a inang vek lo. Naupang thenkhat chuan heng symptoms hi eng emaw zat an nei thei a, thenkhat erawh chuan an lantir lo thei bawk.
A hnuaia table-a mizia te hi ngaihven rawh.
| Mihring ziarang category | A lan chhuah dan tlangpui |
|---|---|
| Taksa hmel lan dan | Vun leh sam dum tak tak nei, rilru pianzia danglam tak, naupang dang aiin taksa sang leh sei zawk, kut zungtang sei leh sei tak nei. |
| Thang | Zawi zawiin taksa rihna sang leh thang chak. |
| Mit hmuh theihna | Mitdelna nasa tak (nearsightedness), lens dislocation, leh mitdelna thlengin. |
| Symptom na tak dang a awm bawk | Ruh chak lo (fragility), thisen zam (stroke leh thinlung natna hlauhawmna tipungtu), leh seizures te. |
| Hmasawnna leh nungchang | Crawling, kal leh thusawi tihkhawtlai. Zirna lama harsatna leh rilru lama harsatna nei te. Nungchang leh rilru thununna lama harsatna awm. |
Doctor-te hian engtin nge hei hi an hmuh?
Ram tam takah chuan nau piang thar screen hmangin Homocystinuria ang chi natna hi a hmain hriat theih a ni. He thisen test hian naupang chu natna vei a hlauhawm em tih hriat theihna a pe a ni.
Results a dik lo a nih chuan doctor chuan natna hi finfiah nan thisen leh zun test specialized dang neih belh a rawt ang. Sri Lanka-ah chuan heng test hi symptoms a lan hnuah leh rinhlelhna a awm hnuah chauh tih tur a ni.
Engtin nge enkawl a nih? Hlauh tur thil a ni em?
Ni lo, lungngai suh. A pawimawh ber chu natna hriat chhuah a nih veleh enkawl tan vat hi a ni.Hemi kawngah hian metabolic doctor chuan a pui ang che. Enkawl dan tur chu naupang hrang hrangah a inang lo thei.
Enkawl dan tlangpui pahnih a awm a, chungte chu:
1. Vitamin B6 enkawl dan
Homocystinuria hi a na lo zawk a awm bawk. Vitamin B6 supplement tam tak pek hian a control theih a ni. I doctor chuan i fate chu he enkawlna hi an tan a tha em tih a enfiah ang. He vitamin hian naupang thenkhat nungchang leh rilru lama harsatna a veng thei a, mit, ruh leh thisen zam lama harsatna awm thei te pawh a ti tlem thei bawk.
2. Ei leh in bik (Low-Methionine Diet) .
Naupangin vitamin B6 enkawlna a dawng lo a nih chuan a dawt leh tur chu methionine tlem ei leh in tan a ni. He diet hi dam chhung atan a ni fo thin. Amino acid disorders lama tui tak dietitian tanpuina lak a pawimawh hle.
| Methionine tlem ei leh in zawm huna ngaihtuah tur thil | |
|---|---|
| Protein tamna ei tur, ei loh vek tur |
|
| Chaw dang tihtlem emaw tihtawp emaw |
|
| Fimkhur taka i ei theih thilte | Thlai leh theiah hian methionine a tlem hle a, chuvangin controlled amounts-a ei theih a ni , i doctor leh nutritionist-te thurawn angin. |
Hei bakah hian doctor chuan bawnghnute aiah naupang hnenah formula bik pek a rawt bawk. He formula hian naupang thanlenna atana mamawh nutrient dang zawng zawng a keng tel vek a, methionine chu paih vek a ni.
Tin, doctor chuan supplement dang engemaw zat a pe thei bawk.
- Betaine leh folic acid: Hengte hian thisenah homocysteine tha lo awmkhawm chu a ti tlem a ni.
- Vitamin B12 leh L-cysteine: Hengte hi natna avang hian a tlachham thei a ni. B12 hi shot atan pek a ni a, L-cysteine hi supplement atan pek a ni.
Enkawlnain a thawk tha em tih hriat chian nan i fa thisen leh zun chu test reng a ngai dawn a ni. I fa a lo upat deuh deuh chuan, enkawlna ruahmannaah hian inthlâk danglamna tê tê i siam a ngai mai thei.
Chuti a nih chuan, nakin hun chungchâng eng nge kan ngaihtuah ang?
Thu lawmawm tak chu enkawlna hi tan hma leh uluk taka chhunzawm a nih chuan naupang chu a lo thang lian thei a, a lo thanglian thei bawk . Inenkawlna dik tak chuan stroke, thinlung natna, leh thisen zam te pawh nasa takin a tihziaawm thei bawk.
A châng chuan enkawl chung pawhin mit lamah harsatna a awm thei. Mahse surgery emaw, hmanraw dang emaw hmanga enkawl theih an ni. A pawimawh ber chu i doctor nen inbiak reng tur leh a thupek dik taka zawm hi a ni.
Take-Home Thuchah a ni
- Homocystinuria hi genetic disease hmuh tur awm lo tak a ni a, taksain kan ei leh inah amino acid awm, methionine a digest thei lo.
- Hei hi nu leh pa atanga rochun gene chhia avanga lo awm a ni.
- Nausen pian hnu rei vak lovah hian symptoms (tlem tawi, mit lama harsatna, thang chak lo) a lo lang thin.
- He natna hi vitamin B6 emaw methionine emaw tlem eitur bik hmangin hlawhtling takin enkawl theih a ni.
- I fa chu a hmaa hriatchhuah leh dam chhung zawnga enkawl chuan i fa chu hrisel, nun pangngai a neih theih nan a pui thei a ni. Hemi chungchangah hian ngaihtuahna i neih chuan i doctor nen zalen takin inbiakna nei rawh.
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