Faʻamaʻi ole Bassen-Kornzweig

O le faʻamaʻi ole Bassen-Kornzweig o se faʻamaʻi seasea tuʻu mai i totonu o aiga. E le mafai e le tagata ona mitiia lelei gaʻo o meaʻai i totonu ole gaʻau.

O le faʻamaʻi ole Bassen-Kornzweig e mafua mai i se faʻaletonu o le genes e taʻu ai le tino e fausia ni lipoproteins (molelaʻele o gaʻo tuʻufaʻatasia ma polotini). O le faʻaletonu e faigata ai i le tino ona faʻalu lelei le gaʻo ma le vaitamini manaʻomia.

Faʻailoga aofia ai:

• Paleni ma faʻafitauli faigata
• Pipiina o le ivitū
• Faʻaitiitia le vaʻai lea e atili ai ona leaga i le alu o le taimi
• Faatuai atinae
• Le mafai ona tupuolaola (tupu) a o pepe
• Vaivaiga maso
• Le lelei le faʻamalosi o maso e masani ona tupu pe a maeʻa le 10 tausaga
• Pupu ulu
• Tautalaga lemu
• O nofoa e le masani ai, e aofia ai lapisi gaʻo e foliga paʻeʻe i lanu, nofoa faʻafuaseʻi, ma faʻamaʻa manogi leaga

E i ai le faʻaleagaina o le retina o mata (retinitis pigmentosa).

Suʻega e mafai ona faia e fesoasoani ai faʻailoaina lenei tulaga aofia ai:

• Apolipoprotein B suʻega toto
• Toto suʻega e vaʻai ai mo vaivaiga le lelei (gaʻo-soluble vitamini A, D, E, ma le K)
• "Burr-cell" malformation o sela mumu (acanthocytosis)
• Faitau atoa le toto (CBC)
• Cholesterol suesuega
• Eletise
• Suʻega o mata
• Saosaoa conduction saoasaoa
• Suʻe faʻataʻitaʻiga suʻesuʻega

E mafai ona avanoa suʻesuʻega faʻafuaseʻi mo suiga i le MTP gafa

Togafitiga aofia ai lapopoa fualaʻau o vailaʻau faʻaopopo aofia ai gaʻo-soluble vitamini (vitamini A, vitamini D, vitamini E, ma vitamini K).

Linoleic acid faʻaopoopoga e fautuaina foi.

Tagata e iai lenei faʻafitauli e tatau ona talanoa i le fomaʻi o meaʻai. E manaʻomia ni suiga ole taumafataga e puipuia ai faʻafitauli ole manava. Lenei ono aofia ai le faʻatapulaʻaina o taumafaina o nisi ituaiga gaʻo.

Faʻaopopo o auala-filifili triglycerides o loʻo ave i lalo o le vaʻavaʻaiga a se soifua maloloina tausi soifua. E tatau ona faʻaaogaina ma le faʻaeteete, aua e ono afaina ai le ate.

O le lelei o le tagata e faʻamoemoe i le aofaʻi o faiʻai ma faʻafitauli neula.

Faʻafitauli e ono aofia ai:

• Tauaso
• Faaleagaina o le mafaufau
• Leiloa o gaioiga o peripheral neula, uncoordinated gaioiga (ataxia)

Valaʻau lau tautua pe a fai o maua si au tama poʻo si au tama auga o lenei faʻamaʻi. O fesoasoani faʻavae e mafai ona fesoasoani i aiga ia malamalama i le tulaga ma mea lamatia o le mautofi ai, ma aʻoaʻo pe faʻafefea ona tausi le tagata.

Ole maualuga ole gaʻo ole soli-vitamini e mafai ona faʻatelegese ai le alualu i luma o nisi faʻafitauli, pei ole retina faʻaleagaina ma faʻaititia le vaʻai.

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B le lava

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Faʻaletonu i le metabolism i lipids. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 104

Shamir R. Faʻaletonu o malabsorption. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 364.