Bothata ba Hartnup

Boloetse ba Hartnup ke lefutso moo ho nang le sekoli phetisong ea li-amino acid tse ling (joalo ka tryptophan le histidine) ke mala a manyane le liphio.

Boloetse ba Hartnup ke boemo ba ts'oaetso bo amanang le amino acid. Ke boemo bo futsitsoeng. Boemo bona bo hlaha ka lebaka la phetoho ho SLC6A19 liphatsa tsa lefutso. Ngoana o lokela ho rua kopi ea lefutso le sa sebetseng ho batsoali ka bobeli e le hore a amehe hampe.

Boemo hangata bo hlaha pakeng tsa lilemo tse 3 ho isa ho tse 9.

Batho ba bangata ha ba bontše matšoao. Haeba matšoao a hlaha, hangata a hlaha bongoaneng mme a ka kenyelletsa:

• Letšollo
• Maemo a fetoha
• Mathata a sistimi ea methapo (neurologic), joalo ka molumo o sa tloaelehang oa mesifa le metsamao e sa tsamaellaneng
• Bofubelu ba letlalo le khubelu, hangata ha letlalo le chabetsoe ke letsatsi
• Ho ba le kutlo ho leseli (photosensitivity)
• Seemo se sekgutshwane

Mofani oa tlhokomelo ea bophelo o tla laela tlhahlobo ea moroto ho lekola maemo a phahameng a li-amino acid tse sa jeleng paate. Methati ea li-amino acid tse ling e ka ba e tloaelehileng.

Mofani oa hau a ka etsa liteko tsa lefutso le bakang boemo bona. Liteko tsa biochemical le tsona li ka laeloa.

Kalafo e kenyelletsa:

• Ho qoba ho pepeseha ha letsatsi ka ho apara liaparo tse sireletsang le ho sebelisa setlolo se sireletsang letlalo letsatsing se nang le tšireletso ea tse 15 kapa ho feta
• Ho ja lijo tse nang le protheine e ngata
• Ho nka lisebelisoa tse nang le nicotinamide
• Ho fumana kalafo ea bophelo bo botle ba kelello, joalo ka ho noa li-anti-depressing kapa li-stabilizers, haeba ho fetoha maikutlo kapa mathata a mang a bophelo ba kelello

Batho ba bangata ba nang le bothata bona ba ka lebella ho phela bophelo bo tloaelehileng ba se na bokooa. Nako le nako, ho bile le litlaleho tsa lefu le matla la methapo esita le lefu la malapa a nang le bothata bona.

Maemong a mangata, ha ho na mathata. Mathata ha a etsahala a ka kenyelletsa:

• Liphetoho mmala oa letlalo tse sa feleng
• Mathata a bophelo bo botle ba kelello
• Moferefere
• Mekhatlo e sa lumellaneng

Matšoao a sistimi ea methapo hangata a ka fetoha. Leha ho le joalo, maemong a sa tloaelehang li ka ba matla kapa tsa beha bophelo kotsing.

Bitsa mofani oa hau haeba u na le matšoao a boemo bona, haholo haeba u na le nalane ea lelapa ea lefu la Hartnup. Ho khothaletsoa tlhabollo ea lefutso haeba o na le nalane ea lelapa ea boemo bona mme o rera ho ima.

Tlhabollo ea lefutso pele ho lenyalo le kemolo e ka thusa ho thibela linyeoe tse ling. Ho ja lijo tse nang le protheine e ngata ho ka thibela bofokoli ba amino acid bo bakang matšoao.

Bhutia YD, Ganapathy V. Ts'oaetso ea protheine le ho monya. Ka: Ho boletse HM, ed. Physiology ea Pampiri ea meno. La 6th. Philadelphia, PA: Elsevier; 2018: khaolo ea 47.

Gibson KM, Pearl PL. Liphoso tsa tlhaho ea metabolism le tsamaiso ea methapo. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, bahlophisi. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 91.

Kliegman RM, Stanton BF, Mohalaleli Geme JW, et al. Liphoso tsa metabolism ea amino acid. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 103.