I fate hian he natna hmuh tur awm lo tak hi a nei em? (Nonketotic Hyperglycinemia - NKH) Hemi chungchang hi han sawi ila

I naute piang thar chu a muhil reng em, hnute pek a ngaihven lo em ni? A nih loh leh thawk harsatna a nei em? Nu leh pa angin heng thilte hi i hmuh hian hlauhna nasa tak i neih hi thil pangngai tak a ni. A châng chuan, heng natna lan chhuahna hnuaiah hian natna khirh tak, leh thil awm lo tak a awm thei bawk. Chutiang dinhmun pakhat chu `(Nonketotic Hyperglycinemia)` emaw `(NKH)` emaw a ni. Hemi chungchang hi vawiin hian chipchiar tak leh awlsam takin i sawi dawn nia.

`(NKH)` tih awmzia i hria em?

A awlsam zawngin sawi ila, ``Nonketotic Hyperglycinemia`` emaw ``NKH`` emaw hi genetic condition hmuh tur awm lo tak a ni . Thil thleng chu kan naute taksa hian ``glycine`` an tih molecule chu a control tha thei lo va, a ti chhe thei lo bawk.

Tunah chuan `(glycine)` chu eng nge ni tih i zawt mai thei. `(Glycine)` hi amino acid `(amino acid)` a ni. Building sak nan brick a mamawh ang bawkin heng amino acid te hi kan taksaa protein siam nan a pawimawh hle. Chuvangin, naute taksain he `(glycine)` hi a thunun tha thei lo a nih chuan taksa hmun hrang hrangah a pungkhawm tan a, a bik takin thluak ah Hei hi \ul lo taka `(glycine)` level a san chuan `(hyperglycinemia)` an ti a. Hei hian naute chu thluak lama harsatna nasa tak a thlen thei a, coma a thlen thei a, a chang chuan thihna pawh a thlen thei bawk.

A hminga "nonketotic" tih hian taksaa glycine tihpunna tur natna dang aiin a danglam tih a kawk a ni. NKH hi inborn error of metabolism an ti bawk . Pian tirh atanga lo awm a ni a, taksaa chemical reaction thenkhat a awm dik loh dan a nghawng a ni. Hei hi a hming dang chu glycine encephalopathy a ni.

`(NKH)` tih hi a danglamna a awm em?

Ni e, zirchiangtute chuan NKH hi chi hnih ah an then a: classical leh variant . Hei hi genes inthlak danglamna chi hnih vang a ni. Classical leh variant NKH tih hming hian eng gene nge mutation nei tih a kawk a ni.

Classical `(NKH)` hi chi hnih ah then belh a ni - severe leh attenuated . Chungte chu a natna lanchhuahna nasat dan azirin thliar hran a ni. Chung zingah chuan `(NKH)` na tak hi a tam ber a ni .

Hetiang dinhmun hi engtiang chiahin nge a awm?

`(NKH)` hi natna hmuh tur awm lo tak a ni . Khawvel pumah nausen 76,000 zinga pakhat vel chu he natna hian a vei a ni. Chuvangin he thu hi i hriat hian hlauthawng suh. Mahse, fimkhur a pawimawh hle.

`(NKH)` natna lan chhuah dan chu engte nge ni?

``NKH'' natna khirh leh na lo tak takte chhinchhiahna hi pian tirh atangin a intan tlangpui . A châng chuan, a dam chhûng thla engemaw zât chhûngin natna lan chhuahna a lo lang thei bawk.

`(NKH)` natna khirh tak lan chhuah dan:

Naute `(NKH)` na tak nei ten an hriat hmasak ber tur chu:

• Mut tam lutuk (lethargy): Hei hi zawi zawiin a pung thei a, coma-ah a kal thei bawk.
• Muscle chak lohnaHypotonia: Naute chu nunna nei lo niin a inhria thei.
• Nunna atana hlauhawm thawk harsatna : Hei hi dam tirh lamah pawh hmuh theih a ni.

Heng natna lan chhuah hmasak te hi i pumpelh chuan a tlangpuiin a hnuaia mite hi i hmu ang:

• Bawnghnute in harsat.
• Thâwk lak tihtawp (apnea).
• Thil hriatna lama harsatna nasa tak .
• Muscle a nghet lo (spasticity) a awm.
• Seizures control harsa tak tak te .

Vawi tam tak chu heng naupangte hian an thanlenna atana thil pawimawh pangngai, crawling, toy vawn, thut leh bottle atanga in te hi an ti thei lo. Thil an zir a nih pawhin chu thiamna chu hun kal zelah `regress` thei a ni. Chu chu nu leh pate tân a lungchhiatthlâk êm êm tih han ngaihtuah teh.

Attenuated NKH awm dan: 1.1.

Mild NKH symptoms hi NKH na tak aiin a na lo zawk a, mahse a inang tlangpui. Naupang NKH na lo nei te hian an hmasawnna tur milestone an thleng tlangpui a, mahse an theihna erawh a danglam thei hle . Hmasawnna chu a tlai thei a, mahse naupang tam zawk chuan a tawpah chuan kea kal leh midang biak dan an zir thin. Naupang thenkhat chuan seizures an nei a, mahse hengte hi a tlangpuiin a na lo va, enkawl theih a ni. Chu bakah, duh loh zawnga chetna (chorea), taksa ruh nghet lo (spasticity), leh hyperactivity (hyperactivity) te pawh a lang thei bawk.

Eng thilin nge naute `(NKH)` an neih chhan?

Chutianga a awm chhan ber chu gene-a inthlâk danglamna, a nih loh leh mutations . A bik takin damlo 80% vel chu `(GLDC)` an tih gene inthlak danglam vang a ni. A bak zawng chu `(AMT)` an tih gene inthlak danglam vang a ni.

Heng `(GLDC)` leh `(AMT)` gene te hian kan taksa chu `(enzyme)` thenkhat siam turin a hrilh a. Heng `(enzyme)` te hi pawl angin an thawk ho thin. He pawl hi `(glycine cleavage system )` an ti a. Hei hian a tih chu `(glycine)` kan mamawh loh hunah a then te tein a then a ni. `(Glycine)` a tam chuan thluak hnathawh a tibuai a ni.

Chuvangin, heng gene pahnih zinga pakhatah hian mutation a awm chuan kan taksa tan glycine tihchhiat a harsa thin. Mutations thenkhat chuan he glycine cleavage system hnathawh hi a ti tlem a, thenkhat erawh chuan a ti bo vek thung. He system hian hna a thawh that loh chuan naute taksa peng hrang hrangah, a bik takin thluak ah hian extra glycine a pungkhawm thin. Scientist-te chuan heng thil dik lote hian NKH symptoms a thlen dan chiang takin an la hre lo.

Natna ``(NKH)`` hi ``autosomal recessive pattern.``-ah a inherit a ni.`` Hei hian cell tina gene copy pahnih hian mutation hi an nei vek tur a ni tihna a ni. A tlangpuiin ``(NKH)`` vei biological parent pahnih hian he mutated gene hi copy khat an nei a, mahse symptoms an nei lo.

Doctor ten `(NKH)` natna hi engtin nge an hriat chian?

`(NKH)` hriat chian nan i naute doctor-in taksa a enfiah hmasa ang a, a natna lan chhuah dan chu ngun takin a en ang. Tichuan,

• Cerebrospinal fluid (`(Cerebral Spinal Fluid - CSF)`) leh thisen plasma `(plasma)`-a `(glycine)` awm zat an enfiah thin. A chunga kan sawi tak `(enzyme)` hnathawh a tlahniam chuan `(CSF)` leh plasma-a `(glycine)` level a sang chho zel a ni. Tin, `(CSF)`-a `(glycine)` level leh plasma-a `(glycine)` level inkar ratio pawh a sang hle bawk.
• Thluak MRI scan pawh hi a tangkai hle a, NKH vei naute thluaka inthlak danglamna pattern bik a lantir theih avangin.
• Genetic testing hian NKH thlentu gene pahnih zinga pakhatah mutation a awm leh awm loh a enfiah thei bawk.
• A tlem hle a, a natna hriat chian nan liver hmun te tak te chu enfiah (liver biopsy) atan lak theih a ni .

`(NKH)` enkawlna tur engte nge ni?

Naute `(Nonketotic Hyperglycinemia)` vei te hi an damlo nasa tlangpui avangin `(Neonatal Intensive Care Unit - NICU)` ah enkawl an ngai a ni. `(NICU)` ah chuan i naute hian enkawlna leh enkawlna sang tak a dawng ang.

Vanduaithlak takin tunah hian `(NKH)` na tak damdawi a la awm lo . Mahse, naute `(NKH)` chi hrang hrang nei tan chuan enkawlna thenkhat chu a \angkai thei hle. Heng enkawlnate hi a hlawk ber tur chuan a hma leh nasa taka pek a ngai a ni.

Heng enkawlnate hi a mah chauhin emaw, a rualin emaw pek theih a ni:

• Naute taksaa `(glycine)` level tihhniamtu damdawi (e.g. `(sodium benzoate)` ).
• Nerve cell thenkhata `(glycine)` hnathawh kalh zawnga hnathawk damdawi (e.g. `(ketamine)` emaw `(dextromethorphan)` ).

Seizures control pawh a pawimawh hle. Seizures hi standard damdawi hmanga control a harsa thei hle. Enkawlna hlawhtling tur chuan damdawi engemaw zat i inzawmkhawm a ngai mai thei a, damdawi thenkhat, valproic acid ang chi te pawh ei loh a ngai thei bawk. Ketogenic diet hian seizures control nan a pui thei bawk.

`(NKH)` symptom dang enkawl dan:

• Mechanical hmanga boruak luh theihna.
• Chaw pe turin pum chhunga tube dah (gastrostomy tube).
• Taksa lam enkawlna.
• A hmaa inrawlh leh tanpuina dang pek belh.

I theih chuan i doctor hnenah clinical trial-a tel theih dan tur zawt rawh .

`(NKH)` vei dam chhung hi engzat nge ni ang?

NKH vei hi eng chen nge a dam theih ang tih chiang taka sawi a harsa hle. Hei hi a chhan chu genetic mutation hrang hrang a awm avangin natna nasat dan pawh a inang lo hle a ni. Mahse, Foundation for Nonketotic Hyperglycinemia chuan he natna vei naute zinga 80% chu nausen piang (neonatal period) (naupang thla hmasa ber) chhung hian an dam khawchhuak lo niin an chhut Neonatal period-ah dam khawchhuak mah se, NKH na tak nei naupang tam tak chu kum 5 aia rei an dam lo va, i fa medical team chuan hei hi a chiang zawkin an hre thei ang che. An thiamna leh an puihnaah innghat rawh. He thu hi hriat a harsat zia chu ka hrethiam.

He natna hi ven theih a ni em?

No. (NKH) hi genetic condition a ni a, ven theih a ni lo . I fain he natna hi a rochun mai thei tih i ngaihtuah a nih chuan naupai tum hmain genetic counselor i biak hmasak phawt a tha.

Engtikah nge ka naute hi doctor hnenah ka hruai ang?

I naute piang thar hian a rilru a hah lutuk emaw, nau hnute pek a duh lo emaw a nih chuan naupang enkawltu hnenah i hruai nghal tur a ni. Doctor chuan damdawi in emergency department-ah enkawl vat turin a refer thei bawk che a ni. Heng natna lan chhuah chhan hi eng pawh ni se, enfiah nghal a pawimawh.

Ka naute doctor hnenah eng zawhna nge ka zawh ang?

I naute hian `(NKH)` a neih chuan heng zawhnate hi i zawt mai thei:

• `(NKH)` a lo pian chhan chu eng nge ni?
• Ka naute hian eng variant nge `(NKH)` a neih?
• Eng enkawlna tur nge i rawt?
• He natna nasat dan tur hril thei tur test a awm em?
• Ka naute hian eng chen nge hmasawnna (kal, thusawi, finna) lamah a hmasawn theih ang?
• Ka naute hian a dam chhung zawng damdawi a ei a ngai dawn em ni?
• Ka nakin lawka fate pawh `(NKH)` an lo thanglian thei ang em?
• Support group i recommend thei ang em?

I naute chu Nonketotic Hyperglycinemia (NKH) a vei tih hmuhchhuah a nih chuan, chu thuthang chu a tithinur thei a, a buaithlak thei bawk. I naute hian natna hlauhawm tak, enkawlna tlemte chauh nei a nei tih hriat chu a buaithlak thei hle. A theih chuan NKH vei naupang chhungkaw tan support group zawng rawh. I theih ang tawka thil tawn tawh mi dangte nêna inbiakna chuan chakna engemaw chen a pe thei che a, i hmachhawn theih nân a ṭanpui thei bawk che a ni. I naute medical team chu i kalna apiangah thlawp turin an awm tih hre reng ang che.

## Thil pawimawh hriat reng tur (Take-Home Message)

• (NKH) hi a awm lo hle a, genetic disease na tak a ni .
• Hei hian naute taksaah chemical ``glycine'' tih chu a ti khawm a, a bik takin thluak ah a awm khawm thin .
• A lan chhuah dan chu pian tirh atangin a intan tlangpui a, mutthilh lutuk, chaw pek harsa, thawk harsa, leh seizures te pawh a ni thei.
• `(NKH)` dinhmun na tak a niDamdawi awm lo mah se, enkawlna awlsam tak tak a awm.
• I naute hian heng symptoms te hi a neih chuan doctor thurawn lak nghal a pawimawh hle .
• He zinkawngah hian nangmah chauh i ni lo. I medical team leh support group te hnen atangin tanpuina la rawh . I rilru chakna pawh a pawimawh hle.

He thu hi in tan a tangkai ngei ka beisei. Hetiang hun khirh takah hian a pawimawh ber chu chak taka awm reng hi a ni.

` Nonketotic Hyperglycinemia, NKH, Glycine, Genetic Diseases, Naupan lai natna, Neurological Disorders, Metabolic Defects te