Yu smɔl pikin gɛt dis sik we nɔ kin apin so ɔltɛm? (Nonketotic Hyperglycinemia - NKH) Lɛ wi tɔk bɔt dis

Yu pikin we yu jɔs bɔn kin slip ɔltɛm, ɛn i nɔ kin want fɔ gi pikin in bɛlɛ? Ɔ i gɛt prɔblɛm fɔ blo? Na nɔmal tin fɔ mek yu as mama ɔ papa fil bad bad wan we yu si dɛn tin ya. Sɔmtɛm, wan siriɔs, ɛn rare, kɔndishɔn kin de biɛn dɛn sik ya. wan pan dεn kayn kכndyushכn dεm ya na `(Nכnketotik Hyperglycinemia)` כ `(NKH)`. Lɛ wi tɔk bɔt dis ditayli ɛn jɔs tide.

Yu sabi wetin `(NKH)` min?

Fɔ tɔk am simpul wan, ``Nonketotic Hyperglycinemia`` ɔ ``NKH`` na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm . wetin de apin na we wi pikin in bכdi nכ kin kכntrol כ brok dכn wan mכlikul we dεn kכl ``glycine`` fayn fayn wan.

Naw yu kin de aks wetin na `(glycine)`. `(Glycine)` na wan amino asid `(amino asid)`. Jɔs lɛk aw wi nid brik fɔ bil bildin, dɛn amino asid ya impɔtant fɔ bil prɔtin dɛn na wi bɔdi. so, we di pikin in bכdi nכ ebul fכ kכntro dis `(glycine)` fayn fayn wan, i de stat fכ kכlכm na difrεn pat dεm na di bכdi, spεshal wan na di bren . dis dεn kכl am `(hyperglycinemia)` we di lεvεl fכ `(glycine)` de inkrεs we nכ nid. Dis kin mek di pikin gɛt siriɔs nyurolɔjik prɔblɛm, kɔma, ɛn sɔntɛnde i kin ivin day pan di pikin.

di "nonketotic" pat pan di nem de rifer to di fact se i difrεn frכm כda sik dεm we kin mek di glycine inkrεs na di bכdi. NKH dεn kכl am bak inborn error fכ mεtabolism . Na wan kכndyushכn we de apin we dεn bכn am εn i de afekt di we aw sכm kεmikכl dεm na di bכdi nכ de apin fayn fayn wan. Wan ɔda nem fɔ dis na glycine encephalopathy.

Eni variant de fo `(NKH)`?

Yes, di wan dεm we de du risach sheb NKH to tu men tכp dεm: klasical εn vεryכnt . Dis kin bi bay tu kayn chenj dεm na di jin dεm. di nem dεm klasical εn vεryכnt NKH de rifer to us jin gεt di mכtεshכn.

Klasik `(NKH)` de fכs divayd insay tu tכp dεm - siriכs εn attenuated . Dɛn kin sheb dɛn tin ya akɔdin to aw di sik dɛn kin tranga. Fɔ dɛn wan ya , siriɔs `(NKH)` na di wan we kɔmɔn pas ɔl .

Aw dis sik kin kɔmɔn?

`(NKH)` na wan sik we nɔ kin bɔku . Ɔlsay na di wɔl, na lɛk wan pan ɛvri 76,000 pikin dɛn kin gɛt dis sik. So nɔ fred we yu yɛri bɔt dis. Bɔt, i rili impɔtant fɔ mek wi no.

Wetin na di sayn dɛm fɔ `(NKH)` sik?

di simptom dεm fכ כl tu di siriכs εn mild fכm dεm fכ ``NKH'' kin bigin we dεn bכn am . Sɔmtɛm, di sayn dɛm kin apia insay di fɔs mɔnt dɛm wae pɔrsin de liv.

Di simptom dɛm fɔ siriɔs `(NKH)` kɔndishɔn:

di fכs tin dεm we pikin dεm we gεt siriכs `(NKH)` kin notis na:

• Fɔ slip pasmak (lɛthargy): Dis kin go ɔp smɔl smɔl ɛn go bifo to kɔma.
• Di mɔsul dɛn we wikHypotonia: Di pikin kin fil se i nɔ gɛt layf.
• I nɔ kin izi fɔ yu fɔ blo we kin mek yu layf de pan denja : Dɛn kin si dis na di fɔs tɛm we yu de liv.

If yu avɔyd dɛn fɔs sik ya, yu go si dɛn tin ya:

• I nɔ izi fɔ drink milk.
• I kin stɔp fɔ blo wan wan tɛm (apnea).
• Sivɛri intɛlektual disabiliti .
• di mכsul dεm we nכ stif (spasticity).
• Di sik dɛn we kin mek pɔsin sik we i nɔ kin izi fɔ kɔntrol .

Bɔrku tɛm, dɛn pikin ya nɔr kin ebul fɔ du nɔmal divɛlɔpmɛnt maylston dɛm, lɛk fɔ kray, ol tɔys, sidɔm ɔp, ɛn drink frɔm bɔtul. Ivin if dɛn lan sɔntin, dɛn skil dɛn de kin `regress` as tɛm de go. Imajin aw dat kin mek mama ɛn papa dɛn at pwɛl.

Karakta dεm fכ Attenuated NKH:

Di simptom dɛm fɔ mild NKH nɔ kin siriɔs pas di wan dɛm fɔ siriɔs NKH, bɔt bɔku tɛm dɛn kin fiba. Pikin dεm we gεt mild NKH kin rich dεn divεlכpmεnt maylston dεm, bכt dεn abiliti kin difrεnt bכku . Di divɛlɔpmɛnt kin delay, bɔt bɔku pikin dɛn kin dɔn lan fɔ waka ɛn tɔk to ɔda pipul dɛn. Sɔm pikin dɛn kin gɛt sik we dɛn kɔl seizure, bɔt bɔku tɛm dɛn kin gɛt dis sik ɛn dɛn kin trit dɛn. pan tap dat, dεn kin si bak sכmtεm dεm lεk fכ muv we yu nכ want (chorea), mכsul dεm we stif (spasticity), εn hyperactivity (hyperactivity).

wetin de mek di pikin dεm de divεlכp `(NKH)`?

Di men tin we kin mek dis apin na we di jin dɛn kin chenj, ɔ di chenj dɛn we dɛn kin chenj . in patikyula, bכt 80% pan di sik pipul dεm de kכz fכ chenj dεm na di jin we dεn kכl `(GLDC)`. di rεst de kכz bay chenj dεm na di jin we dεn kכl `(AMT)`.

dis `(GLDC)` εn `(AMT)` jin dεm de instrכkt wi bכdi fכ mek sכm `(εnzym)`. dis `(enzymes)` dεm de wok tכgeda lεk grup. dis grup dεn kכl am di `(glycine cleavage system )`. wetin dis de du na we wi nכ nid `(glycine)`, i de brok am to sכm sכm pat dεm. we di amoun fכ `(Glycine)` inkrεs, i de intafεr di bren fכ wok.

So, if mכtεshכn de insay εni wan pan dεn tu jin dεm ya, i kin at fכ wi bכdi fכ brok dכn glycine. sכm mכtεshכn dεm de ridyus di wok we dis glycine cleavage system de du, we כda wan dεm de kכmplit wan. we dis sistεm nכ de wok fayn, εkstra glycine de bכku na di pikin in כgan dεm, spεshal wan na di bren. Sayɛnsman dɛn stil nɔ no bɛtɛ bɛtɛ wan aw dɛn abnɔmal tin ya kin mek pɔsin gɛt NKH simptom.

di sik ``(NKH)`` de inhεrit insay wan ``autosomal rεsεsiv patεn.`` dis min se di tu kכpi dεm fכ di jin insay εvri sεl fכ gεt di mכtεshכn. כltεm, di tu bayolojikal mama εn papa fכ pכsin we gεt ``(NKH)`` gεt wan kכpi fכ dis mכtayt jin, bכt dεn nכ de divεlכp di simptom dεm.

Aw dɔktɔ dɛn kin no if pɔsin gɛt `(NKH)` sik?

Fɔ no if yu gɛt `(NKH)`, yu pikin in dɔktɔ go fɔs du fyzikal ɛgzam ɛn tek tɛm luk di sayn dɛm. Dɔn,

• di lεvεl fכ `(glycine)` insay di sεribrospεnal fכluid (`(Sεribral Spinal Fluid - CSF)`) εn bכdi plasma `(plasma)` dεn de tεst. we di aktvכti fכ di `(εnzym)` we wi bin dכn tכk bכt, di lεvεl fכ `(glycine)` insay `(CSF)` εn plasma de inkrεs. כlso, di rεshכ bitwin di lεvεl fכ `(glycine)` na `(CSF)` εn di lεvεl fכ `(glycine)` na plasma de inkrεs bak.
• MRI skan fכ di bren de rili yusful bak, biכs i kin sho wan spεshal patεn fכ chenj dεm na di bren fכ pikin dεm we gεt NKH.
• jεnεtik tεst kin chεk bak fכ mכtεshכn insay wan pan di tu jin dεm we de mek NKH.
• Na smɔl tɛm nɔmɔ dɛn kin tek smɔl pat pan di liva fɔ ɛgzamin (liva bayɔpsi) fɔ kɔnfɔm di diagnosis.

Wetin na di tritmɛnt dɛm fɔ `(NKH)`?

biכs pikin dεm we gεt `(Nonketotic Hyperglycinemia)` kin sik bad bad wan, dεn nid fכ trit dεm na `(Neonatal Intensive Care Unit - NICU)` . Insay di `(NICU)`, yu pikin go gɛt ay levul fɔ kia ɛn tritmɛnt.

כnכfכs, naw nכ mεrεshכn de fכ siriכs `(NKH)` . כltu, fכ bebi dεm we gεt mכl fכm dεm fכ `(NKH)`, sכm tritmεnt dεm kin εp. Dɛn tritmɛnt ya nid fɔ gi kwik ɛn agresiv wan fɔ mek dɛn go wok fayn.

Dɛn kin gi dɛn tritmɛnt ya dɛn wan ɔ dɛn kin gi dɛn togɛda:

• mεdisin dεm we de ridyus di lεvεl fכ `(glycine)` na di pikin in bכdi (e.g. `(sodium benzoate)` ).
• drog dεm we de wok agens di akshכn fכ `(glycine)` insay sכm nεv sεl dεm (e.g. `(ketamine)` כ `(dextromethorphan)` ).

Fɔ kɔntrol di sik dɛn we de mek pɔsin sik rili impɔtant bak. I kin tranga fɔ kɔntrol di sik we pɔsin kin gɛt wit standad mɛrɛsin dɛn. Fɔ mek yu gɛt di tritmɛnt fayn, yu kin nid fɔ jɔyn bɔku mɛrɛsin dɛn, ɛn sɔm mɛrɛsin dɛn lɛk valproic acid, yu kin nid fɔ avɔyd. Wan ketogenic diet kin ɛp bak fɔ kɔntrol di sik dɛn we de mek pɔsin sik.

Tritmɛnt fɔ ɔda `(NKH)` simptom dɛm:

• Mekanikal ventilashɔn.
• wan tכb we dεn kin put insay di bεlε fכ gi it (gastrostomy tube).
• Fizik tɛrapi.
• Fɔ ɛp yu kwik kwik wan ɛn ɔda sɔpɔt.

If yu ebul, aks yu dɔktɔ bɔt aw yu go ebul fɔ tek pat pan wan klinik trial .

Wetin na di layf we pɔsin we gɛt `(NKH)` kin liv?

I nɔ kin izi fɔ tɔk klia wan aw lɔng pɔsin we gɛt NKH kin liv. Dis na bikɔs bɔku difrɛn jɛnɛtik muteshon dɛn de ɛn aw di sik kin tranga kin difrɛn bad bad wan. כltu, di Foundation for Nonketotic Hyperglycinemia εstimat se 80% pan di pikin dεm we gεt dis sik nכ de liv di nyu bכbi (di fכs mכnt fכ layf) . Ivin if dεn de liv di nyu bכbi, bכku pikin dεm we gεt siriכs NKH nכ de liv pas 5. Yu pikin in mεdikal tim go ebul fכ gi yu bεtεh aidia fכ dis. Dipen pan dɛn ɛkspɛriɛns ɛn sɔpɔt. A ɔndastand aw i go mɔs bi se i nɔ izi fɔ yɛri dis.

Yu tink se dɛn go ebul fɔ avɔyd dis sik?

Nɔ. (NKH) na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks ɛn dɛn nɔ kin ebul fɔ avɔyd am . If yu de wɔri se yu pikin go gɛt dis sik, i go fayn fɔ mek yu tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks bifo yu plan fɔ gɛt bɛlɛ.

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ?

If yu pikin we dɛn jɔs bɔn de sho se i taya pasmak ɔ i nɔ want fɔ gi pikin in bɛlɛ , yu fɔ kɛr am go to dɔktɔ we de mɛn pikin dɛn wantɛm wantɛm. Di dɔktɔ kin sɛn yu bak to di ɔspitul in imejensi dipatmɛnt fɔ mek dɛn trit yu kwik kwik wan. Ilɛk wetin mek dɛn gɛt dɛn sik ya, i impɔtant fɔ mek dɛn chɛk dɛn wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

If yu pikin gɛt `(NKH)`, yu kin aks dɛn kwɛstyɔn ya:

• Wetin na di rizin fɔ di fɔmɛshɔn fɔ `(NKH)`?
• Us variant of `(NKH)` mi pikin gɛt?
• Us tritmɛnt dɛn yu kin advays?
• Ɛni tɛst de fɔ no aw dis sik bad?
• aw fa mi pikin kin go bifo pan divεlכpmεnt (we de waka, tכk, intεlεjεns)?
• Yu tink se mi pikin go gɛt fɔ tek mɛrɛsin fɔ di res ɔf in layf?
• Mi fiuja pikin dɛm sɛf kin divɛlɔp `(NKH)`?
• Yu kin rɛkɔmɛnd wan sɔpɔt grup?

We dɛn no se yu pikin gɛt Nonketotic Hyperglycinemia (NKH), di nyus kin mek pɔsin shɔk ɛn i kin mek i kɔnfyus. I kin tranga fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we nɔ gɛt bɛtɛ tritmɛnt. If i pɔsibul, fɛn sɔpɔt grup fɔ famili dɛn we gɛt pikin dɛn we gɛt NKH. We yu tɔk to ɔda pipul dɛn we dɔn pas di sem tin dɛn we yu ebul fɔ du, dat go mek yu gɛt sɔm trɛnk ɛn ɛp yu fɔ bia wit di prɔblɛm. Mɛmba se yu pikin in mɛdikal tim de fɔ sɔpɔt yu ɛvri step na di rod.

## Impɔtant Tin dɛn fɔ Mɛmba (Tek-Home Message)

• (NKH) na wan sik we nɔ kin bɔku ɛn we kin rili siriɔs .
• dis de mek wan kεmikכl we dεn kכl ``glycine'' kכmכt na di pikin in bכdi, spεshal wan na di bren .
• Bɔku tɛm, di sayn dɛm kin bigin we dɛn bɔn pikin ɛn i kin bi se i kin slip pasmak, i nɔ kin izi fɔ it, i nɔ kin izi fɔ blo, ɛn i kin gɛt sik we i de fil.
• Siviɔs `(NKH)` kɔndishɔnPan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, sɔm tritmɛnt dɛn de we nɔ at fɔ mɛn.
• If yu pikin gɛt dɛn sik ya, i impɔtant fɔ go to dɔktɔ wantɛm wantɛm .
• Nɔto yu wan de na dis waka. Gɛt ɛp frɔm yu mɛdikal tim ɛn sɔpɔt grup dɛn . Yu maynd trɛnk bak rili impɔtant.

A op se dis infɔmeshɔn go ɛp yu. Di tin we impɔtant pas ɔl insay dis tranga tɛm na fɔ kɔntinyu fɔ strɔng.

` Nonketotic Hyperglycinemia, NKH, Glycine, Jɛnɛtik Sik, Pikin Sik, Nyurolɔjik Dizayd, Mɛtabolik Difɛkt