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.