Yu bɔdi nɔ ebul fɔ kip ɛn yuz glukɔs fayn fayn wan? Lɛ wi tɔk bɔt Glycogen Storage Disease (GSD)!

Yu ɔ yu pikin kin fil taya ɔltɛm? Ɔ sɔntɛnde, yu kin fil kol, yu kin swet, ɛn yu ed kin tɔn wantɛm wantɛm? Yu kin taya kwik we yu de waka ɔ we yu de ple? Sɔntɛnde, dɛn tin ya kin bi bikɔs ɔf smɔl prɔblɛm na di we aw wi bɔdi de kɔntrol ɛnaji, dat na di we aw i de yuz shuga. Tide wi go tɔk bɔt wan sik we nɔ kin bɔku we ɔlman rili impɔtant fɔ no bɔt. Dat na glycogen storage disease , we dכkta dεn kin kכl am bak `(Glycogen Storage Disease)` כ `(GSD)` fכ sכt.

Simpul wan, wetin dis ``(GSD)`` min?

Okay, naw mek wi si wetin dis `(GSD)` bi. Fɔ tɔk am simpul wan, na tin we wi bɔdi nɔ kin ebul fɔ yuz ɔ kip glycogen fayn fayn wan . dis na wan kayn mεtabolik dizכrd we de inhεrit, we min se i de pas frכm mama εn papa to pikin.

Naw yu kin de wɔnda wetin na glycogen. Glycogen na we fɔ mek wi bɔdi kip glukɔs ɔ shuga frɔm di it we wi de it. As yu no, glukose na di men fiul we de gi wi bɔdi ɛnaji. Wi kin gɛt dis glukɔs frɔm di it dɛn we wi kin it we gɛt kabɔhaydrɛt. di bכdi nכ nid כl dis glukכs wan tεm. so, di bכdi de stכr dis εksyכs glukכs na di liva εn mכsul dεm as glycogen. Wi kin yuz am leta we wi nid ɛnaji.

di prכsεs we wi bכdi de mek glycogen frכm glukכs dεn kכl am glycogenesis . semweso, we di bכdi nid εnεji bak, di prכsεs we dis glycogen we dεn stכr de brok dכn εn mek am bak to glukכs dεn kכl am glycogenolysis . difrεn εnzym dεm de εp fכ du dεn tu prכsεs dεm ya.

Glycogen storage disease (GSD) kin apin we wan ɔ mɔ pan dɛn ɛnzaym ya nɔ de ɔ we nɔ de wok fayn. dis min se di bכdi nכ kin yuz di glycogen we dεn stכr fכ εnεji כ mεnten di bכdi shuga lεvεl fayn fayn wan. Dis kin mek yu gɛt bɔku prɔblɛm dɛn, lɛk we yu blɔd shuga nɔ bɔku bɔku tɛm (hypoglycemia) , yu liva kin pwɛl, ɛn yu mɔsul dɛn kin wik.

Difrɛn kayn `(GSD)` de?

yes, biכs wi bכdi de yuz difrεn εnzym dεm fכ proכses glycogen, difrεn tכp dεm de fכ GSD – at le 19! Dɔktɔ dɛn no bɔku tin bɔt sɔm kayn, bɔt dɛn stil de lan bɔt ɔda wan dɛn. GSD kin afɛkt yu liva ɔ yu mɔsul dɛn mɔ. Bɔt sɔm kayn kin mek prɔblɛm na ɔda pat na yu bɔdi, bak.

εvri tכp GSD de kכz fכ wan spεsifi k εnzym we de involv fכ stכrej כ brok dכwn fכ glycogen. dis min se di εnzym de mis כ i de ridyus kכntεm. Sɔntɛnde, dɔktɔ dɛn kin gi dɛn kayn tin ya nem afta di nem fɔ di ɛnzaym we nɔ de ɔ di sayɛnsman we bin fɔs fɛn di GSD.

Aw kɔmɔn sik we dɛn kɔl glycogen storage disease?

Fɔ tru, sik we dɛn kɔl glycogen storage disease na wan tin we nɔ kin apin so ɔltɛm . ``(GSD)`` tayp I ``(GSD tayp I (von Gierke sik))``, we na di kayn we we kכmכn pas כl, de apin pan lεk wan pan 100,000 pikin dεm we dεn bכn. So yu kin si aw dis nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm fɔ GSD?

De sayn dɛm fɔ GSD kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dis min se ivin tu pipul dɛm wae gɛt di sem kayn GSD kin gɛt difrɛn sayn dɛm. GSD Tayp I (di kayn we we kɔmɔn pas ɔl) kin bigin fɔ sho di sayn dɛn we di pikin ol tri to 4 mɔnt . Bɔt sɔm pan di ɔda kayn dɛn kin sho di sik leta, sɔm tɛm dɛn kin ivin we dɛn yɔŋ.

di tu men sayn dεm we dεn kin si pan dis kכndyushכn na lכw bכdi shuga (haypoglycemia) εn/כ taya we yu de du εksεsayz, lεk fכ rכn כ jomp (εksεsayz intolerance).

lכw bכdi shuga (haypoglycemia) na we yu bכdi glukכs lεvεl dכn dכn dכn 70 mg/dL. We dis kin apin, yu kin gɛt sɔm kayn sik lɛk:

• Fɔ fil lɛk se yu bɔdi de shek.
• Swet ɛn fil kol.
• Diziz , na filin fɔ spin ed.
• Fɔ fil se yu wik ɛn nɔ gɛt layf.
• Di at we de blo.
• Sɔmtɛm, angri kin kam we pɔsin nɔ kin ebul fɔ bia, ɛn sɔm pipul dɛn kin kɔl dis ``hyperphagia''.
• I nɔ izi fɔ tink, nɔ ebul fɔ pe atɛnshɔn.
• Fɔ fil se yu de wɔri ɛn vɛks.
• Paleness na di skin (pallor).
• Sɔntɛnde, if di shuga na yu blɔd go dɔŋ tumɔs , yu kin gɛt sik we de mek yu sik.

Imajin if yu smɔl pikin bin de ple fayn ɛn wantɛm wantɛm i bigin fɔ shek, swet, ɛn i nɔ ivin ebul fɔ tɔk? Aw yu go fil fɔ fred da tɛm de? Na dat na di haypoglycemia .

Apat frɔm dis, yu kin si ɔda tin dɛn lɛk `(GSD)` bak:

• Mɔsul dɛn kin kramp ɔ di mɔsul dɛn kin wik.
• Pikin dɛn kin gro sloslo ɛn dɛn nɔ kin gɛt bɛtɛ wet.
• Di liva we de mek di liva big (hepatomegaly).
• Lɔw mɔsul tɔyn.
• di kɔlɔstrel we de na di blɔd we de go ɔp (hyperlipidemia).

Wetin kin mek pɔsin gɛt GSD?

di men tin we kin mek GSD na di jεnεtik mכtεshכn dεm we dεn kin gεt . dis jεnεtik mכtεshכn dεm de afekt di wok we di εnzym dεm we nid fכ stכr εn yuz glycogen de du. Pikin kin gɛt dɛn jɛnɛtik muteshon ya frɔm in mama ɛn papa.

כl di GSD dεm gεt כtosom rεsεsiv inhεritεns patεn. dis min se fכ mek di pikin gεt di kכndyushכn, di jεnεtik vεryushכn fכ gεt frכm di mama εn papa.

Bɔt sɔm kayn dɛn lɛk GSD Grup IX, gɛt X-linked inheritance . dis min se di jεnεtik mכtεshכn de pan yu X kromozom. If man (we na wan X kromozom nכmכ) gεt dis mכtεshכn, i go gεt di sik. if uman gεt dis mכtεshכn pan wan X kromozom εn di כda X kromozom hεlty, i nכ go sho di sik, bכt i kin bi di wan we de kכri di sik.

Aw a go no if a gɛt `(GSD)`?

Fɔ no fɔ tru if yu pikin gɛt GSD, i go mɔs bi se yu pikin in dɔktɔ go ɔda fɔ mek dɛn du sɔm tɛst dɛn. Bikɔs GSD na tin we nɔ kin apin so ɔltɛm, i kin tek sɔm tɛm fɔ pul ɔda kɔndishɔn dɛn ɛn fɔ no uskayn kayn GSD dɛn gɛt. Dɛn tɛst ya kin bi:

• Fast blɔd shuga tɛst: If yu blɔd shuga lɛvɛl smɔl afta yu nɔ it natin na mɔnin, i kin bi sayn fɔ GSD.
• Keton blɔd tɛst: We di bɔdi nɔ ebul fɔ yuz glukɔs, i de bɔn fat fɔ gɛt ɛnaji. dis de mek tin dεm we dεn kכl kεtכn. Pikin dεm we gεt GSD kin gεt wan stet fכ kεtosis (kεtכn dεm we de inkrεs na di bכdi).
• Besik mεtabolik panεl: Dis kin gi wan aidia fכ di pikin in כvala hεlth.
• Lipid panɛl: Dis impɔtant bak bikɔs di ay kɔlɔstrel (hayperlipidemia) kin apin na GSD.
• Test fɔ di liva fɔ wok: Dɛn tin ya kin chɛk di wɛlbɔdi na yu pikin in liva. If ɛni abnɔmal tin de, i kin bi sayn fɔ GSD.
• Urinalysis: Urinalysis kin chɛk di kriaytinin lɛvɛl (we de sho se di kidni de wok) ɛn di yurik asid lɛvɛl. Bɔku tɛm, GSD kin sho se di yurik asid gɛt ay ay (hyperuricemia) .
• Abdominal ultrasound: Dis kin chɛk if di pikin in liva dɔn big.
• jεnεtik tεst: Dis de chεk fכ prכblεm wit di jin dεm we de rilet to difrεn εnzym dεm.

Pan ɔl we sɔm patikyula jenɛtik tɛst dɛn de fɔ no bɔku kayn GSD, sɔntɛnde yu pikin in dɔktɔ kin tɛl yu fɔ tek bayɔpsi , we min se yu fɔ tek smɔl pat pan di liva ɔ di mɔsul, fɔ mek yu no se i gɛt di sik.

Aw dɛn kin trit GSD?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl glycogen storage disease. Di tritmɛnt na fɔ kɔntrol di sik dɛn we dɛn kin gɛt. Di tritmɛnt opshɔn dɛn kin difrɛn fɔ di kayn GSD we yu gɛt. Na sɔm ɛgzampul dɛn bɔt aw fɔ trit yu:

• Fɔ mek yu nɔ gɛt bɔku blɔd shuga: If yu gi yu kɔnstach we yu nɔ kuk ɔ ɔda tin we tan lɛk am di rayt tɛm ɛn di rayt we, dat kin ɛp fɔ mek di blɔd shuga nɔ chenj. Kɔnstach na kɔmpleks kabɔhaydrɛt we at smɔl fɔ di bɔdi fɔ dayjɛst. So, i kin kɔntrol di shuga we de na di blɔd fɔ lɔng tɛm pas di kabɔhaydrɛt dɛn we de na di it dɛn we pɔsin kin it ɔltɛm. Naw, wan tin de we dɛn kin sɛl we bɛtɛ pas am ɛn we kin de na di bɔdi fɔ lɔng tɛm. Dis go mek yu nɔ nid fɔ grap midul nɛt fɔ fid yu dɔg bak.
• Fɔ trit yu blɔd shuga we nɔ bɔku: If yu blɔd shuga go dɔŋ bikɔs ɔf GSD , yu fɔ trit am wantɛm wantɛm wit kabɔhaydrɛt. If nɔto dat, di haypoglycemia kin wɔs ɛn mek i gɛt prɔblɛm dɛn lɛk fɔ sik ɛn kɔma.
• Fɔ kɔntrol di ay kɔlɔstrel: Wan klas ɔf drɔgs we dɛn kɔl statin de ɛp fɔ kɔntrol di kɔlɔstrel lɛvɛl.
• Fɔ kɔntrol di ay yurik asid lɛvɛl: di drɔg we dɛn kɔl allopurinol de ɛp fɔ ridyus di yurik asid we de na di bɔdi.

Sɔm kayn GSD (fɔ ɛgzampul, GSD tayp II) kin trit wit ɛnzaym riplesmɛnt tɛrapi (ERT) . Dɛn kin gi dis as IV infushɔn. Risach stil de go bifo fɔ si if dɛn kin yuz ERT fɔ ɔda kayn GSD.

If di liva dɔn pwɛl bad bad wan bikɔs ɔf GSD, i kin nid fɔ mek dɛn transplant di liva .

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl glycogen storage disease?

Bikɔs sik dɛn we de mek pɔsin stɔrɔj ​​glycogen na jɛnɛtik (inherited) kɔndishɔn, natin nɔ de we wi kin du fɔ mek i nɔ apin.

If sɔmbɔdi na yu famili gɛt GSD, ɛn yu de tink fɔ bɔn pikin, i fayn fɔ go to jenɛtik kɔyl fɔ no if yusɛf gɛt dis jenɛtik chenj.

Wetin na di wɛlbɔdi stet fɔ pɔsin we gɛt `(GSD)`?

Insay bɔku kayn GSD, fɔ no di sik kwik kwik wan ɛn fɔ mɛn am fayn fayn wan kin mek di pɔsin in prɔgnosis bɛtɛ. Bɔt sɔm kayn GSD kin at fɔ manej. Yu dɔktɔ kin gi yu bɛtɛ aidia bɔt wetin fɔ ɛkspɛkt.

Wetin na di prɔblɛm dɛn we kin kam wit GSD?

GSD kin mek difrɛn kayn prɔblɛm dɛn. I dipen pan:

• Na di `(GSD)` tayp.
• If dɛn delay fɔ no di sik.
• Di sik, if dɛn nɔ mɛn am fayn, i go kɔntinyu.

Fɔ ɛgzampul, sɔm pan di kɔmplikɛshɔn dɛm we kin apin bikɔs ɔf di ``(GSD)`` Kategori I we dɛn nɔ trit na:

• di bon dεm we de dכn, i izi fכ brok, εn כstioporosis .
• Dilay we pɔsin kin rich fɔ bɔn pikin.
• Gout we pɔsin kin gɛt.
• Kidni sik.
• Pulmonari haypatɛyshɔn.
• di tכmכro dεm we nכ de fכ kεnsar na di liva (hεpatik adenomas).
• Uman dɛn we gɛt polycystic ovary syndrome (PCOS).
• Inflameshɔn na di pankrias (Pancreatitis).
• If yu blɔd shuga nɔ bɔku bɔku tɛm, dat kin afɛkt di we aw yu bren de wok.

Wetin na di layfspan fɔ pɔsin we gɛt `(GSD)`?

Di layf we pɔsin we gɛt glycogen storage disease (GSD) kin liv kin difrɛn fɔ di kayn sik, aw dɛn kin no di sik kwik kwik wan, ɛn aw dɛn kin mɛn am fayn fayn wan. Sɔm kayn kin kil pɔsin we i smɔl, ɛn ɔda wan dɛn kin mek i liv nɔmal layf. Yu dɔktɔ kin gi yu di bɛst advays bɔt dis.

Ustɛm a fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt mɔsul dɛn wik ɔ yu gɛt sayn dɛn we de kɔntinyu fɔ sho se yu blɔd shuga nɔ bɔku, go to dɔktɔ wantɛm wantɛm.

Glycogen stכrej sik dεm na rεr εn kכmpleks kכndishכn dεm. So, if i pɔsibul, i go fayn fɔ fɛn dɔktɔ we no bɔt dis sik ɛn aw fɔ trit am. Yu pikin in mɛdikal tim go de wit yu ɛvri step fɔ ɛp yu fɔ disayd di bɛst tritmɛnt fɔ dɛn.

Mɛsej we dɛn kin kɛr go na os:

So, a op se naw yu dɔn ɔndastand mɔ bɔt wetin wi bin de tɔk bɔt, Glycogen Storage Disease (GSD). Pan ɔl we dis na tɔpik we nɔ izi fɔ tɔk bɔt, i rili impɔtant fɔ mɛmba di men pɔynt dɛn.

Mɛmba se: GSD na grup fɔ sik dɛn we nɔ kin bɔku, we wi kin gɛt frɔm wi mama ɛn papa, we kin mek di bɔdi nɔ yuz glycogen (wi bɔdi in shuga stoa) fayn fayn wan.

• Di men sayn dɛm: Yu kin gɛt smɔl blɔd shuga ɔltɛm (haypoglycemia) ɛn yu kin taya kwik kwik wan we yu de du ɛksɛsayz.
• Di tin we kin mek i apin: Di ɛnzaym dɛn we nɔ de na di bɔdi we kin apin bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks.
• Aw fɔ no di sik: Dɛn kin du blɔd tɛst, urine test, ɔltra saund, jenɛtik tɛst, ɛn sɔntɛm dɛn kin tek bayɔpsi.
• Tritmɛnt: Kɔntrol di simptomatik na di men tin. Di it (especially konstach), mɛrɛsin if nid de, ɛn ɛnzaym riplesmɛnt tɛrapi (ERT) fɔ sɔm kayn dɛn.
• De tin wae impɔtant pas ɔl: If yu no di sik kwik kwik wan ɛn de mɛn yu fayn fayn wan, dat kin ɛp yu fɔ liv yu layf we nɔrmal. If yu gɛt sɔm sayn dɛm, nɔr delay fɔ go to dɔktɔ.

Wi op se dis infɔmeshɔn go fayn fɔ yu. Stay wit wɛlbɔdi!