Yu no bɔt de sik wae nɔr kin bɔrku pan yu jɛnɛtiks wae dɛn kɔl Homocystinuria (HCU)? Lɛ wi tɔk bɔt am!

Tide wi go tɔk bɔt wan kɔndishɔn we wi nɔ bin dɔn yɛri bɔt bifo, bɔt i rili impɔtant fɔ mek ɔlman no bɔt. dis dεn kכl am Homocystinuria, כ `(HCU)` fכ sכt. Sɔntɛnde, we sɔm kemikal dɛn we de apin insay wi bɔdi nɔ de go fayn, prɔblɛm dɛn we wi nɔ bin de ɛkspɛkt kin kam. Dis na wan pan dɛn kayn kɔndishɔn ya we dɛn kɔl `(HCU)`. Nɔ fred, lɛ wi tɔk bɔt dis simpul wan.

Wetin na Homocystinuria (HCU)?

Fɔ tɔk am simpul wan, `(HCU)` na wan sik we nɔ kin bɔku we pɔsin kin gɛt jɛnɛtiks . wetin de apin insay dis na dat wi bכdi nכ kin kכntro di amino asid `(Homocysteine)` fayn fayn wan, dat min se i nכ kin yuz εn pul am. Imajin, wetin go apin if tin dɛn we nɔ gɛt wan yus gɛda na wi bɔdi? jכs lεk dat, dis `(Homocysteine)` de kכmכt we nכ nid insay di bכdi εn di urine. dis akyumyuleshכn kin mek siriכs kכmplikεshכn dεm na di yay, skel sistεm (wi skel), sεntri nεv sεstem (bren εn spεnal kכd), εn vaskulכr sistεm (blכd vεsεl dεm). Naw yu gɛt wan kwɛstyɔn , wetin na dɛn amino asid ya? di amino asid dεm na di bεs bildin blכk dεm fכ di protin dεm. Jɔs lɛk aw wi nid brik fɔ bil bildin, na so amino asid dɛn nid fɔ bil prɔtin dɛn na wi bɔdi. wi bכdi de mek pat pan dis `(Homocysteine)` frכm כda amino asid we dεn kכl `(Methionine)`. כlso, frכm di it dεm we gεt hכy protin we wi de it, fכ egzampl, mit, fish, εn eg, wi kin gεt mכr `(Methionine)`. nכmal wan, wi bכdi de brok dכn dis `(Methionine)` εn tכn am to `(Homocysteine)`. כltu, insay di bכdi fכ pכsin we gεt `(Homocystinuria), wan εnzym we nid fכ kכntro dis `(Homocysteine)` fayn fayn wan, dat na fכ kip am na di lεvεl we dεn nid εn chenj di rεst, de mis, כ i nכ de wok fayn fayn wan. Enzym na wan kayn protin we de mek di kεmikכl rεakshכn dεm na wi bכdi kwik kwik wan. so we dis εnzym nכ de, di lεvεl fכ `(Homocysteine)` de inkrεs.

Wetin na di men kayn homocystinuria?

Risach pipul dεn dכn sheb homocystinuria to difrεn tכp dεm bay di כndalayn jεnεtik kכz dεm. Tu men kayn dɛn de:

1. Sistathionine beta-synthase (CBS) we nɔ de (Klasik Homocystinuria) .

Dis na di kayn homocystinuria we kכmכn pas כl . Cystathionine beta-synthase (CBS) na εnzym we de εp fכ kכnvכlt homocysteine ​​to כda amino asid, cysteine. dis kayn sik kin apin we di CBS jin de prodyuz tu sכm כ nכ de prodyuz CBS εnzym, כ we di CBS εnzym nכ de wok fayn. di CBS enzym nid vaytam in B6, we dεn kכl bak pyridoxine, fכ wok fayn fayn wan. Dis kayn de divayd mɔ akɔdin to aw yu de ansa fayn to vaytamɛn B6 sɔpɔtmɛnt.

2. Kobalamin (cbl) mεtabolism dεfekt

wi bכdi nid fכ kכnvכlt sכm pan di homocysteine ​​bak to mεtiכnin. dis prכsεs de involv vaytam in B12, we dεn kכl bak kobalamin. wi bכdi de go tru sεvεra stεp dεm fכ kכnvכlt homocysteine ​​bak to mεtiכnin. Homocystinuria, we kin kam bikɔs di kɔbalamin nɔ de, kin apin we di bɔdi nɔ ebul fɔ dɔn dis step, i nɔ de mek di kɔrɛkt ɛnzaym, ɔ i de mek ɛnzaym dɛn we nɔ fayn.

Wetin na di difrɛns bitwin homocystinuria ɛn Marfan syndrome?

Marfan syndrome na wan kayn jenɛtik disɔda we nɔ kin apin so ɔltɛm we kin afɛkt di kɔnektiv tisu ɔlsay na di bɔdi. Bɔrku pan de sayn dɛm fɔ dis sik kin fiba di wan dɛm wae gɛt homocystinuria. Fɔ ɛgzampul, lɔng an ɛn fut, lɔng, tin finga, ectopia lentis, ɛn myopia. כltu, di Marfan sεndrכm de kכz fכ wan mכtεshכn na di Fibrillin-1 (FBN1) jin. Pipul dεm wae gεt Marfan sεndrכm gεt nכmal lεvεl dεm fכ homocysteine ​​εn methionine.

Udat dɛn kin afɛkt mɔ pan dis sik? Aw i kɔmɔn?

Homocystinuria de kכz bay wan jεnεtik mכtεshכn. So ɛnibɔdi kin divɛlɔp am. Bɔt sɔm stɔdi dɛn dɔn sho se dis sik kin afɛkt pipul dɛn na sɔm kɔntri dɛn pas ɔda kɔntri dɛn. Dɛn kɔntri ya na:

• Ayriland
• Nɔwe
• Jamani
• Qatar

Homocystinuria na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . De kayn sik wae kin pasmak kin afɛkt bitwin wan pan ɔl 200,000 pipul dɛm ɛn wan pan ɛvri 335,000 pipul dɛm ɔlsay na di wɔl. Dat na rili rare.

Wetin na di sayn dɛm fɔ homocystinuria?

di simptom dεm fכ `(Homocystinuria)` de difrεn dipכnt pan di tכp we yu gεt. Bɔrku tɛm, dɛn kin bigin fɔ apia na di fɔs sɔm ia wae pɔrsin de liv. Bɔt sɔm pipul dɛn nɔ kin gɛt ɛni sayn te dɛn big. di mכst kכmכn tכp fכ `(Homocystinuria)` kin afekt dεn sistεm dεm ya:

• Yay
• Skel sistɛm we de na di skel
• Sɛntral nervɔs sistɛm
• Vaskul sistεm

Di simptom dɛm fɔ `(Homocystinuria)` kin inklud:

Di sayn dɛm wae kin afɛkt di yay:

• di lens na di yay de muv kכmכt na in nכmal posishכn (ectopia lentis). Dis kin mek pɔsin nɔ ebul fɔ si fayn .
• I nɔ kin ebul fɔ si fayn bad wan (myopia), we min se i nɔ kin ebul fɔ si fa fawe.

Di simptom dɛm we de afɛkt di skel sistɛm:

• Fɔ sho se i de gro pasmak .
• Di an, leg, ɛn finga dɛn we nɔ kin lɔng.
• di kכn dεm de bεn insay εn di kכn dεm de kכnכk tכgeda we di lεg dεm strεt (dεn kכl dis bak ``kכk kכn'').
• Di chɛst kin sink insay ɔ i kin kɔmɔt bifo.
• Wan kɔva we di spayna de kɔba (skɔliosis).
• Pipul wae gɛt homocystinuria kin gɛt risk bak fɔ gɛt ɔstioporosis .

Di simptom dɛm we de afɛkt di sɛntral nervɔs sistɛm:

• Divɛlɔpmɛnt dilɛys dɛn . Dis min se yu nɔ fɔ sho se yu gɛt sɛns ɔ yu bɔdi we fit fɔ di ej.
• I nɔ izi fɔ lan.

Di sayn dɛm we de afɛkt di at ɛn di blɔd sistɛm:

• Di risk fɔ mek blɔd klɔt bɔku. Dɛn blɔd ya kin mek pɔsin gɛt denja lɛk strok ɔ pulmonary embolism.

Wetin na di tin dɛm wae kin mek pɔrsin gɛt homocystinuria?

Bɔku kayn homocystinuria kin kam bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks, ɔ di chenj dɛn we de apin na difrɛn jin dɛn.

Di tin dɛn we kin mek pɔsin gɛt jɛnɛtiks

di mכst kכmכn tכp fכ `(Homocystinuria)` de kכz fכ wan mכtεshכn na di `(CBS)` jin. dis `(CBS)` jin de tεl wi bכdi aw fכ mek wan εnzym we dεn kכl `(Cystathionine beta-synthase)`. dis εnzym de rispansabl fכ di kεmikכl path we de kכnvכlt `(Homocysteine)` asid to `(Methionine)`. `(Homocystinuria)` kin kכz bak bay mכtεshכn dεm na di jin dεm `(MTHFR)`, `(MTR)`, `(MTRR)` εn `(MMADHC)`. כl dis jin dεm de rispansabl fכ kכnvכlt `(Homocysteine)` asid to `(Methionine). if eni wan pan dεn jin dεm ya gεt mכtεshכn, di εnzym we rilevεnt nכ de wok fayn. Dɔn `(Homocysteine)` de bigin fɔ gɛda na di bɔdi. Bɔt di wan dɛn we de stɔdi bɔt dis stil nɔ rili shɔ wetin mek di ay levul fɔ homocysteine ​​de mek pɔsin gɛt simptom dɛn fɔ homocystinuria. yu de inhεrit homocystinuria insay wan כtosom rεsεsiv patεn. Dis min se yu go jɔs gɛt di sik if yu mama ɛn papa ɔl tu, we nɔ kin gɛt ɛni sayn, pas di jin we di sik afɛkt to yu.

Yu tink se homocystinuria kin bi bikɔs yu nɔ gɛt bɛtɛ vaytamɛn?

yes, homocystinuria kin apin bak bikoz fכ tin dεm we nכ de fכ jεnεtik. Dis sik kin kam bak we yu nɔ gɛt vaytamɛn B6, vaytamɛn B9 (folate), ɔ vaytamɛn B12 (kobalamin) bad bad wan .

Aw dɛn kin no bɔt Homocystinuria?

Insay kɔntri dɛn lɛk Amɛrika, dɛn kin yuz tɛst fɔ chɛk di nyu bɔn pikin dɛn fɔ chɛk fɔ sɔm tin dɛn we de apin na di bɔdi, lɛk homocystinuria. di homocysteine ​​test de mכsu di lεvεl dεm fכ homocysteine ​​εn methionine na yu pikin in bכdi. If di tɛst rizɔlt na pɔsitiv, we sho se di kɔndishɔn kin de, yu pikin in dɔktɔ go ɔda fɔ mek dɛn du ɔda tɛst fɔ kɔnfirm di rizɔlt. כltu, dεn nyu bכn tεst dεm ya nכ kin kכrekt 100% כltεm. Sɔntɛnde, dɛn nɔ kin ebul fɔ no sɔm tin dɛn we kin apin. So, sɔm pipul dɛn kin no se dɛn gɛt homocystinuria afta dɛn dɔn sho se dɛn gɛt di sik. Pan ɔl we bɔku sayn dɛn kin apin we dɛn smɔl ɔ we dɛn smɔl, sɔntɛnde dɛn kin apin we dɛn big. If yu gɛt sayn dɛm fɔ `(Homocystinuria)`, yu dɔktɔ go ɔda fɔ mek dɛn du `(Homocysteine ​​test)` fɔ kɔnfɔm di kɔndishɔn. If di rizɔlt sho se yu gɛt `(klasik homocystinuria)` (dat na, `(CBS)` dɛfisiɛns), yu dɔktɔ go ɔda ɔda tɛst fɔ no us sabtayp yu gɛt. dis dεn kכl am `(vitamin B6 chalenj)` . Dis tεst de fכnכt aw yu de rεspכnd to vaytam in B6 supliment. Dɔn yu dɔktɔ kin mek di rayt tritmɛnt plan fɔ yu. `(Klasik homocystinuria)` kin kכl dεm lεk dis:

• Vitamin B6-responsive: yu bכdi de mek inof fכ di εnzym ``(CBS)'', so vaytam in B6 kin εp dat enzym fכ wok fayn fayn wan.
• pat pan di vaytam in B6-responsiv: yu bכdi de mek sכm amoun fכ di εnzym ``(CBS)'', so vaytam in B6 kin εp pat pan di bכdi.
• Vitamin B6-non-responsive: yu bכdi nכ de mek inof fכ di εnzym ``(CBS)'', so i nכ go lεk se vaytam in B6 go εp di εnzym.

jεnεtik tεst kin no di mכtεshכn dεm na di jin dεm we de mek homocystinuria. Bɔt dɔktɔ dɛn nɔ kin yuz dɛn tin ya bikɔs na di homocysteine ​​tɛst nɔmɔ kin no di sik.

Wetin na di tritmɛnt fɔ homocystinuria?

Tritmɛnt fɔ homocystinuria involv fɔ kɔntrol di lɛvɛl dɛm fɔ homocysteine ​​na yu blɔd ɛn manej yu simptom dɛm. Di tritmɛnt kin inklud fɔ tek vaytamɛn B6 sɔpɔtmɛnt. If yu gɛt di kayn we we de ansa to vaytamɛn B6 (klasik homocystinuria), vaytamɛn B6 sɔpɔtmɛnt kin inof fɔ mek yu go dɔŋ ɛn kɔntrol yu homocysteine ​​lɛvɛl. Bɔt if yu gɛt di kayn we we nɔ de ansa ɔ we de ansa sɔm pat pan vaytamɛn B6 (klasik homocystinuria), vaytamɛn B6 sɔpɔtmɛnt nɔmɔ nɔ go du fɔ yu. Yu kin nid ɔda tritmɛnt opshɔn dɛn. Dɛn tin ya kin bi:

• di dכg `(Betaine)` (Betaine) כ `(Cystadane): `(Betaine)` de εp fכ ridyus di lεvεl fכ `( Homocysteine ​​)` na yu bכdi.
• spεshal it fכ `(Homocystinuria)`: Yu go gεt fכ fala it we de rεstrikt it dεm we gεt protin εn `(Methionine)`.
• Ɔda sɔpɔtmɛnt dɛn: If yu gɛt ɔda kayn homocystinuria, yu kin nid fɔ tek folate ( vaytamɛn B9 ) ɔ kobalamin ( vaytamɛn B12 ) sɔpɔtmɛnt dɛn bak.

Di tin we impɔtant pas ɔl na fɔ kɔntinyu fɔ du dis tritmɛnt ɔl yu layf . Na da tɛm de nɔmɔ yu go ebul fɔ kɔntrol yu homocysteine ​​lɛvɛl, nɔ bɔku prɔblɛm dɛn, ɛn liv wɛlbɔdi layf.

Aw lɔŋ yu kin liv wit homocystinuria?

If dɛn no se dɛn gɛt am kwik ɛn trit dɛn fayn ɔlsay na dɛn layf, bɔku pikin dɛn we gɛt Homocystinuria kin op fɔ liv nɔmal, wɛlbɔdi layf . So, fɔ no di sik kwik kwik wan ɛn fɔ kɔntinyu fɔ trit am rili impɔtant.

Yu tink se dɛn kin mek dɛn nɔ gɛt homocystinuria?

Bikɔs na jɛnɛtik kɔndishɔn, dɛn nɔ kin ebul fɔ stɔp homocystinuria. Bɔt if yu gɛt bɛlɛ ɔ yu plan fɔ bɔn pikin tumara bambay, i fayn fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks. Jɛnɛtik kɔyl kin ɛp yu fɔ ɔndastand yu risk fɔ gɛt pikin we gɛt homocystinuria. I nɔmal fɔ mek yu fil bad we yu kam fɔ no se yu ɔ yu pikin gɛt wan sik we dɛn kɔl jenɛtik. Tek yu tɛm fɔ lan ɔl wetin yu ebul fɔ lan bɔt homocystinuria. Dɔn, fɛn dɔktɔ we rili ɔndastand yu sik. We yu wok wit mɛtabolik spɛshal pɔsin kin mek yu fil se yu ebul fɔ kɔntrol yusɛf. We yu gi yusɛf pawa wit infɔmeshɔn ɛn tin dɛn we yu nid, yu go ebul fɔ du di bɛst tin.

Fɔ dɔn, di tin we impɔtant pas ɔl (Take-Home Message) .

Okay, so a op se yu naw geht beta andastan pan wetin wi bin de tok boht (Homocystinuria). Na sɔm impɔtant tin dɛn we yu fɔ mɛmba:

• Wetin na `(Homocystinuria)`?Wan sik we nɔ kin apin so ɔltɛm, bɔt we kin rili siriɔs.
• wetin kin apin insay dis na dat di bכdi nכ kin kכntro wan kεmikכl we dεn kכl ``Homocysteine,'' εn i kin gɛda na di bכdi.
• Dis kin mek prɔblɛm wit di yay, di skel, di nervɔs sistɛm, ɛn di blɔd vesel dɛn .
• Di tin we impɔtant pas ɔl na fɔ no di sik kwik kwik wan ɛn gɛt di rayt tritmɛnt ɔlsay na yu layf . If yu du dat, yu go ebul fɔ liv nɔmal layf.
• Vitamin B6, wan spɛshal it, ɛn sɔm mɛrɛsin dɛn na di men tritmɛnt fɔ dis.
• If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, ɔ if ɛnibɔdi na yu famili gɛt dɛn sik ya, mek shɔ se yu go to dɔktɔ.

Nɔr frayd, de bɛst we fɔ dil wit ɛni mɛdikal kɔndishɔn na fɔ no bɔt am gud gud wan. Homocystinuria, jεnεtik sik dεm, homocysteine, amino asid dεm, vaytam in B6, vaytam in B12, mεtiכnin