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Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta F, Uomo F, Fecarotta S, Albano L, Crisci D, Verde A, Fisco MG, Gallo G, Dottore Stagna D, Pricolo MR, Alagia M, Terrone G, Rossi A, Parenti G, Ruoppolo M, Mazzaccara C, Frisso G. Barretta F, et al. Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980. Genes (Basel). 2023. PMID: 37239340 Free PMC article.
MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency. RESULTS: molecu …
MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pr …
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd. Kripps KA, et al. J Inherit Metab Dis. 2022 Mar;45(2):157-168. doi: 10.1002/jimd.12448. Epub 2021 Oct 21. J Inherit Metab Dis. 2022. PMID: 34625984
It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presentation of cblG is variable, ranging from seizures, encephalopathy, macrocytic anemia, hypotonia, and feeding difficulties in the neonatal period to onset of psychiatric sy …
It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presentation of cblG is variable, ran …
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Watkins D, et al. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068375 Free PMC article.
Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. To investigate the molecular basis of t …
Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) dis …