Dambudziko reLeigh

Inherited Metabolic Disorder

Chirwere chaLeigh chinokonzerwa nehutachiona hunokonzerwa nehutachiona hunokanganisa hutachiona hwehutano hwehutano (uropi, mutsara, uye optic mitsipa). Chirwere cheLeigh chinokonzerwa nezvinetso mitochondria, magetsi emasero emuviri.

Chirwere chetachiona chinokonzera chirwere chaLeigh chinogona kupiwa nhaka munzira zvitatu zvakasiyana. Inogona kupiwa nhaka yeC (chikadzi) chromosome sechimiro chekushaya simba kwe enzyme inonzi pyruvate dehydrogenase complex (PDH-Elx).

Inogona kupiwa nhaka sechiitiko chekudzivirira chechipiri chinokanganisa kereke ye enzyme inonzi cytochrome-c-oxidase (COX). Inogonawo kupiwa nhaka sechishanduko muDNA muchitokisi mitochondria.

Zviratidzo

Zviratidzo zvehosha yaLeigh inowanzotanga pakati pemakore matatu nemakore maviri. Sezvo chirwere ichi chinokanganisa hutachiona hwehurumende, zviratidzo zvinogona kusanganisira:

Sezvo chirwere chaLeigh chinowedzera kupfuura nguva, zviratidzo zvinogona kusanganisira:

Kuziva

Kuongororwa kwechirwere chaLeigh kunobva pane zviratidzo izvo mwana kana mwana ane.

Miedzo inogona kuratidza kukwana kwe pyruvate dehydrogenase kana kuvapo kwe lactic acidosis. Vanhu vane chirwere cheLeigh vanogona kunge vane maitiro akasiyana-siyana ekukuvadza muuropi ayo angangowanikwa kuburikidza nekuongorora kweuropi. Mune vamwe vanhu, kuongororwa kwemazwi kunogona kuvepo kuvepo kwehupenyu hwemagetsi.

Kurapa

Kurapa kwechirwere chaLeigh chinowanzosanganisira mavitamini akaita seyamine (vitamini B1). Mimwe mishonga inogona kuisa pfungwa pane zviratidzo zviripo, zvakadai sekurwisa-gadzirisa zvinodhaka kana mishonga yemwoyo kana yeminyo. Kurapa kwepanyama, basa, uye kutaura kunogona kubatsira mwana kusvika paanogona kubudirira.

Sources:

> "NINDS Dambudziko reLeigh's Information Page." Matambudziko. 13 Feb 2007. National Organisation for Neurological Disorders and Stroke.

> "Dambudziko reLeigh." Index of Rare Diseases. 17 Dec 2007. National Organisation for Rare Disorders.

> Macnair, Trisha. "Dambudziko reLeigh." BBC Health. July 2006.