Article
Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
Clinical genetics - 1 May 2024
You Mikyoung, Shamseldin Hanan E, Fogle Halle M, Rushing Blake R, AlMalki Reem H, Jaafar Amal, Hashem Mais, Abdulwahab Firdous, Abdel Rahman Anas M, Krupenko Natalia I, Alkuraya Fowzan S, Krupenko Sergey A
Abstract excerpt
ALDH1L2, a mitochondrial enzyme in folate metabolism, converts 10-formyl-THF (10-formyltetrahydrofolate) to THF (tetrahydrofolate) and CO2. At the cellular level, deficiency of this NADP+-dependent reaction results in marked reduction in NADPH/NADP+ ratio and reduced mitochondrial ATP. Thus far, a single patient with biallelic ALDH1L2 variants and the phenotype of a neurodevelopmental disorder has been reported....
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