Genetic disease hmuh tur awm lo, Homocystinuria (HCU) tih hi i hria em? I sawi dawn nia!

Vawiin hian kan la hriat ngai loh dinhmun kan sawi dawn a, mahse mi zawng zawng hriat a pawimawh hle. Hei hi Homocystinuria, a tawi zawngin `(HCU)` an ti a. A châng chuan kan taksa chhûnga chemical process ṭhenkhat lo awmte chu a kal ṭhat loh chuan beisei loh harsatna a lo chhuak thei a ni. Hei hi chutiang condition pakhat `(HCU)` tih chu a ni. Hlau suh, he thu hi awlsam takin sawi ila.

Homocystinuria (HCU) hi eng nge ni?

A awlsam zawngin, `(HCU)` hi genetic disease hmuh tur awm lo tak a ni . Hemi a thil thleng chu kan taksain amino acid `(Homocysteine)` hi a thunun tha thei lo a, chu chu a hmang thei lo va, a paih chhuak thei lo tihna a ni. Ngaihtuah teh, kan taksaah thil \angkai lo a lo pung khawm a nih chuan eng nge thleng ang? Chutiang chiah chuan he `(Homocysteine)` hi thisen leh zunah a tul lovah a pung khawm thin. Hetianga a khawlkhawm hian mit, ruh (kan ruhro), central nervous system (thluak leh ruhro), leh vascular system (thisen kalna kawng)-ah te harsatna nasa tak a thlen thei a ni. Tunah chuan zawhna i nei ta , heng amino acid te hi engte nge ni? Amino acids hi protein siamtu bulpui ber a ni. Building sak nan brick a mamawh ang bawkin kan taksaa protein siam nan amino acid a ngai bawk. Kan taksa hian he `(Homocysteine)` hi amino acid dang `(Methionine)` an tih atang hian a then a siam a. Tin, protein tamna ei tur, entirnan, sa, sangha, leh artui atang hian `(Methionine)` kan hmu tam zawk bawk. A tlangpuiin kan taksa hian he `(Methionine)` hi a tichhia a, `(Homocysteine)` ah a chantir thin. Amaherawhchu, `(Homocystinuria) vei taksaah hian he `(Homocysteine)` hi dik taka control nana, chu chu a mamawh level-a vawn reng tur leh a bak zawng thlak danglam theihna tura enzyme mamawh chu a bo a, a nih loh leh a thawk tha lo. Enzyme hi kan taksaa chemical reaction ti chaktu protein chi khat a ni. Chuvangin he enzyme hi a awm loh chuan `(Homocysteine)` level a sang chho thin.

Homocystinuria chi hrang hrangte chu engte nge ni?

Researcher te chuan homocystinuria hi a chhan bulpui (underlying genetic causes) atanga thlirin chi hrang hrangah an then a. A chi hnih a awm a, chungte chu:

1. Cystathionine beta-synthase (CBS) tlakchhamna (Classical Homocystinuria) .

Hei hi homocystinuria chi khat a ni ber . Cystathionine beta-synthase (CBS) hi enzyme pakhat a ni a, homocysteine ​​chu amino acid dang, cysteine-ah a chantir thei a ni. Hetiang natna chi hi CBS gene-in CBS enzyme a siam tlem lutuk emaw, a siam chhuah loh emaw, a nih loh leh CBS enzyme a thawk tha lo emaw a lo awm thin. CBS enzyme hian a hnathawh that theih nan vitamin B6, pyridoxine tia hriat bawk a mamawh a ni. Hetiang chi hi vitamin B6 supplement i dawn dan azirin a then belh leh a ni.

2. Cobalamin (cbl) metabolism lama chhiatna

Kan taksa hian homocysteine ​​thenkhat chu methionine ah a chantir leh a ngai a ni. Hetiang tihnaah hian vitamin B12, cobalamin tia hriat bawk a tel a ni. Kan taksa hian homocysteine ​​chu methionine-ah a chantir leh theih nan step engemaw zat a paltlang thin. Cobalamin tlakchhamna avanga lo awm homocystinuria hi taksain he step hi a tih zawh theih loh vang te, enzyme dik tak a siam loh vang te, enzyme chhia a siam chhuah vang te a ni.

Homocystinuria leh Marfan syndrome hi eng nge an danglamna?

Marfan syndrome hi genetic disorder awm lo tak a ni a, taksa pum puia connective tissue a nghawng a ni. He natna lan chhuah dan tam tak hi homocystinuria nen a inang a ni. Entirnan, ke leh ke sei, kut zungtang sei, sei, ectopia lentis, leh myopia. Mahse, Marfan syndrome hi Fibrillin-1 (FBN1) gene a mutation vang a ni. Marfan syndrome vei te hian homocysteine ​​leh methionine level pangngai an nei a.

He natna hian tute nge a nghawng ber? Engtiang chiahin nge a hluar?

Homocystinuria hi genetic mutation avanga lo awm a ni. Chuvangin tu pawhin an tipung thei a ni. Mahse, zirchianna thenkhatah chuan he natna hian ram thenkhata mite chu ram dang aiin a nghawng nasa zawk tih hmuhchhuah a ni. Heng ramte hi:

• Ireland ram a ni
• Norway ram a ni
• Germany ram a ni
• Qatar a ni

Homocystinuria hi genetic natna a awm lo hle a ni . He natna chi khat, khawvel puma mi 200,000 zinga pakhat leh mi 335,000 zinga pakhat inkar a ni. Chu chu a tlem tak zet a ni.

Homocystinuria natna lan chhuahna chu engte nge ni?

`(Homocystinuria)` natna lan chhuah dan hi i neih chi hrang hrang a zirin a inang lo. Kum hmasa lamah an lo lang tan tlangpui. Mahse, mi thenkhat chuan puitlin thlengin symptom an nei lo mai thei. `(Homocystinuria)` chi khat tlanglawn ber hian heng system te hi a nghawng tlangpui a:

• Mit
• Skeletal system a ni
• Central nervous system a ni
• Vascular system a ni

`(Homocystinuria)` natna lan chhuah dan chu:

Mit tichhe thei symptoms: 1.1.

• Mit lens chu a awmna pangngai (ectopia lentis) atangin a kal chhuak a . Hei hian mitdelna a thlen thei a ni .
• Mit hmuh lohna nasa tak (myopia), chu chu hla taka hmuh theih lohna a ni.

Skeletal system tichhe thei symptoms: 1.1.

• Hmasawnna tam lutuk lantir .
• Kut, ke leh kut zungtang sei dan pangngai lo.
• Khup chu chhung lam hawiin a ben a, ke dinglam a nih chuan khup chu a kik khawm a (hei hi ``knock knees'' an ti bawk).
• A rilru chu a inhnim pil emaw, hmalam a rawn chhuak emaw a ni.
• A ruh (spine) a curvature (scoliosis) a awm.
• Homocystinuria vei te pawh hi osteoporosis vei an hlauhawm hle bawk .

Central nervous system tichhe thei natna lan chhuah dan:

• Hmasawnna lama tlai lutuk . Hei hian kum nena inmil finna emaw taksa lama hmasawnna lantir loh tihna a ni.
• Zirna kawngah harsatna a awm.

Cardiovascular system tichhe thei symptoms: 1.1.

• Thisen zam a awm theihna a tipung. Heng thisen zamte hian natna hlauhawm tak tak, stroke emaw pulmonary embolism emaw a thlen thei a ni.

Homocystinuria hi engte nge ni?

Homocystinuria chi tam tak hi gene hrang hranga genetic change, a nih loh leh mutations avanga lo awm a ni.

Genetic avanga lo awm

`(Homocystinuria)` chi khat tlanglawn ber chu `(CBS)` gene a mutation vang a ni. He `(CBS)` gene hian kan taksain enzyme pakhat `(Cystathionine beta-synthase)` siam dan tur a hrilh a. He enzyme hian chemical pathway a siam a, chu chuan `(Homocysteine)` acid chu `(Methionine)` ah a chantir a ni. `(Homocystinuria)` hi gene `(MTHFR)`, `(MTR)`, `(MTRR)` leh `(MMADHC)`-a mutations vang pawh a ni thei. Heng gene zawng zawng hian `(Homocysteine)` acid chu `(Methionine) ah an chantir vek a ni. Heng gene zinga pakhat tal hian mutation a neih chuan a kaihhnawih enzyme hian hna a thawk tha lo. Tichuan taksaah `(Homocysteine)` a lo pung khawm tan ta a ni. Mahse, zirchiangtute chuan engvangin nge homocysteine ​​level sang hian homocystinuria symptom a thlen tih hi an la chiang tawk lo. Homocystinuria hi autosomal recessive pattern-in i rochun thin. Chumi awmzia chu i nu leh pa dik tak pahnih, a tlangpuiin symptom nei lote’n a natna gene chu i hnena an pek chuan natna hi i rochun chauh tihna a ni.

Homocystinuria hi vitamin tlakchham vangin a awm thei em?

Ni e, homocystinuria hi non-genetic cause vang pawh a ni thei. Hetiang dinhmun hi vitamin B6, vitamin B9 (folate), emaw vitamin B12 (cobalamin) tlakchhamna nasa tak vang pawh a ni thei.

Engtin nge Homocystinuria hi hmuhchhuah a nih?

United States ang ramah chuan nau piang thar screening test hmangin metabolic condition engemawzat screening an nei a, chung zingah chuan homocystinuria pawh a tel. Homocysteine ​​test hian i naute thisena homocysteine ​​leh methionine awm zat a teh thin. Test result a positive a nih chuan, chu chuan a natna chu a awm thei tih a tilang a, i naute doctor chuan result finfiah nan test dang neih belh turin a ti ang. Mahse, heng nau piang thar test te hi 100% a dik vek lo. A châng chuan dinhmun ṭhenkhat chu an hre thei lo mai thei. Chuvangin mi thenkhat chuan homocystinuria an vei tih hriatchhuah a nih hnuah symptoms a lan hnuah an vei tih hmuhchhuah a ni. Nausen lai emaw, naupan lai emawa chhinchhiahna tam tak lang mah se, a chang chuan puitlingah pawh a lang thei. `(Homocystinuria)` symptoms i neih chuan i doctor chuan `(Homocysteine ​​test)` a ti ang a, i natna chu a finfiah ang. Results atanga `(classical homocystinuria)` (chu chu `(CBS)` deficiency) i nei tih a hriat chuan i doctor chuan eng subtype nge i neih tih hriat nan test dang a order ang. Hei hi `(vitamin B6 challenge)` an ti a. He test hian vitamin B6 supplement i dawn dan a zirchiang a ni. Chumi hnuah chuan i doctor chuan i tan enkawlna tur ruahmanna dik tak a siam thei ang. `(Classical homocystinuria)` hi hetiang hian kan thliar hrang thei ang.

• Vitamin B6-responsive: I taksa hian enzyme ``(CBS)'' a siam tling a, chuvangin vitamin B6 hian chu enzyme chu a thawk tha thei a ni.
• Partially vitamin B6-responsive: I taksa hian enzyme ``(CBS)'' engemaw zat a siam a, chuvangin vitamin B6 hian a then a pui thei.
• Vitamin B6-non-responsive: I taksa hian enzyme ``(CBS)'' a siam tlem avangin vitamin B6 hian enzyme hi a puih a rinawm loh.

Genetic testing hian homocystinuria thlentu genes-a mutations a awm tih hmuhchhuah theih a ni. Mahse, doctor-te chuan hengte hi an hmang tlangpui lo a, a chhan chu homocysteine ​​test chauh hian a natna hi a hriat theih vang a ni.

Homocystinuria hi eng enkawlna nge ni?

Homocystinuria enkawlnaah hian i thisena homocysteine ​​level control a, i symptoms te enkawl a ni. Enkawlnaah hian vitamin B6 supplement ei a tel tlangpui. Vitamin B6 (classical homocystinuria) dawngtu type i neih chuan vitamin B6 supplement hi i homocysteine ​​level tihhniam leh control nan a tawk mai thei. Mahse, vitamin B6 (classical homocystinuria) dawng lo emaw, a then emaw, a chhanna nei lo chi i neih chuan vitamin B6 supplement chauh hi a tawk lo mai thei. Enkawlna dang i mamawh mai thei. Chûng zîngah chuan:

• Damdawi `(Betaine)` (Betaine) emaw `(Cystadane): `(Betaine)` hian i thisena `( Homocysteine ​​)` level a tihhniam theih nan a pui a ni.
• `(Homocystinuria)` ei tur bik: Protein leh `(Methionine)` awmna ei tur khap tlat diet i zawm a ngai dawn a ni.
• Supplement dang: Homocystinuria chi dang i neih chuan folate ( vitamin B9 ) emaw cobalamin ( vitamin B12 ) emaw supplement i ei a ngai thei bawk.

A pawimawh ber chu he enkawlna hi dam chhung zawnga chhunzawm zel tur a ni . Chumi hnuah chauh chuan i homocysteine ​​level chu i control thei ang a, harsatna i neihte chu i ti tlem thei ang a, nun hrisel tak i hmang thei ang.

Homocystinuria nen hian eng chen nge i dam theih ang?

A hmaa hriatchhuah a nih a, dam chhung zawnga enkawl \ha a nih chuan Homocystinuria vei naupang tam zawk chuan nun pangngai, hrisel taka nun an beisei thei a ni . Chuvangin, a hmaa hriatchhuah leh enkawl chhunzawm zel hi a pawimawh hle.

Homocystinuria hi a veng thei ang em?

Genetic condition a nih avangin homocystinuria hi ven theih a ni lo. Mahse, naupai emaw, nakin lawka fa neih tum emaw i nih chuan genetic counselor nena inbiakna neih a phu hle. Genetic counseling hian homocystinuria vei nau neih theihna tur risk i hriatthiam theih nan a pui thei che a ni. Nangmah emaw, i naute emaw hian genetic condition an nei tih i hriat chuan i rilru a buai tih hi thil pangngai tak a ni. Homocystinuria chungchang i tih theih zawng zawng zir turin hun hmang rawh. Tichuan, i dinhmun hre chiangtu doctor zawng rawh. Metabolic specialist nena thawhhona hian thunun theihna a pe thei che a ni. Thu leh hla leh hmanraw hmanga in chakna hmang hian a tha ber tur i hmu thei a ni.

A tawp berah chuan a pawimawh ber (Take-Home Message) .

Okay, chuvangin tunah chuan kan sawi thin (Homocystinuria) hi i hrethiam zawk ngei ka beisei. Thil pawimawh tak tak hriat reng tur thenkhat chu hetiang hi a ni:

• `(Homocystinuria)` tih hi eng nge ni?Genetic disease hmuh tur awm lo, mahse na tak thei tak a ni.
• Hemi a thil thleng chu taksain chemical ``Homocysteine'' an tih chu a control tha thei lo va, taksaah a pung khawm ta a ni.
• Hei hian mit, ruh, nervous system, leh thisen kalna kawngah harsatna a thlen thei a ni .
• A pawimawh ber chu natna hi hriat hmasak a , i dam chhung zawnga enkawlna dik tak dawng hi a ni . Chutianga i tih chuan nun pangngaiin i nung thei ang.
• Vitamin B6, ei leh in bik, leh damdawi thenkhat te hi hemi enkawlna atana hmanraw pawimawh ber a ni.
• Hemi chungchangah hian zawhna dang i neih chuan, emaw, i chhungte zingah heng natna lan chhuah dan hi i nei a nih chuan, damdawi lam thurawn la ngei ang che.

Hlau suh, damdawi lam harsatna eng pawh hmachhawn dan tha ber chu a chungchang hriat chian hi a ni. Homocystinuria, genetic diseases, homocysteine, amino acids, vitamin B6, vitamin B12, methionine te a awm bawk