All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Abstract

Diagnostic Value of the MAT1A Gene Mutations in Methionine Adenosyltransferase I/III Deficiency: Possible Relevance to Various Neurological Manifestations

Author(s): Mahoko Furujo, Toshihide Kubo, Masako Kinoshita, Masayoshi Nagao

Methionine adenosyltransferase I/III (MAT I/III) deficiency is a metabolic disorder exhibiting persistent hypermethioninemia and neurological problems such as mental retardation and movement disorders by brain demyelination. Current diagnosis of MAT I/III deficiency completely depends upon newborn mass screening. Recently, correlation between the type of mutation of the MAT1A gene and clinical presentation has been investigated. The most common mutation, heterozygous for the autosomal dominant Arg264His mutation, is a relatively benign phenotype which requires no treatment. In contrast, care must be taken on the Arg292Cis mutation, especially if compounded with mutations at Arg356 (Arg356Pro, Arg356Leu, and Arg356Gln), for association of myelination disorder. Since MAT I/III catalyzes conversion of methionine to produce S-adenosylmethionine (SAM), supplementation of SAM is a therapeutic strategy to improve neurological problems. Hypermethioninemia can be corrected by methionine restriction; however, it may cause depletion of SAM. DNA testing is important for early diagnosis to prevent neurological manifestations.


Full-Text | PDF

Share this       

antalya escort

izmir rus escort

bursa escort bayan

antalya escort bayanlar

izmir escort

porno indir

porno izle

beşiktaş escort

eskişehir escort

burdur escort

bartın escort

havalandırma

türk takipçi satın al

smmabi.com

takipbonus.com

izmir escort

bursa escort

türk porno

escort bayan

yabanci porno

takipçi satın al

takipçi satın al

instagram takipçi satın al

instagram beğeni satın al

instagram takipçi satın al

takipçi satın alma

escort

panel smm

takipçi satın al instagram

smm panel

ataköy escort

izmit escort

Ledger Live desktop: Your secure gateway to crypto. Secure your assets with confidence using Ledger Live desktop. Experience a secure gateway that prioritizes the safety of your digital assets, providing peace of mind.