Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant

Metabolic Brain Disease

Volumn 28, Issue 3, 2013, Pages 519-522

  Kim, Seung Jin ^a   Lee, Beom Hee ^a   Kim, Yoo Mi ^a   Kim, Gu Hwan ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

Cerebral infarction; Hyperhomocysteinemia; MTHFR deficiency

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANTICOAGULANT AGENT; BETAINE; CELL DNA; CYANOCOBALAMIN; FIBRINOLYTIC AGENT; FOLIC ACID; GENOMIC DNA; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; PYRIDOXINE; THIAMINE;

ADULT; AMINO ACID BLOOD LEVEL; ANTICOAGULANT THERAPY; ARTICLE; BRAIN HEMORRHAGE; BRAIN INFARCTION; CASE REPORT; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER; ENZYME DEFICIENCY; FIBRINOLYTIC THERAPY; FOLIC ACID BLOOD LEVEL; GENE MUTATION; GENETIC VARIABILITY; HEADACHE; HOMOZYGOTE; HUMAN; HYPERHOMOCYSTEINEMIA; LATERAL SINUS THROMBOSIS; MALE; METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARIETAL LOBE; PROGNOSIS; SAGITTAL SINUS THROMBOSIS; STROKE PATIENT; VITAMIN BLOOD LEVEL; VOMITING; WEAKNESS;

EID: 84890146040     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-013-9398-y     Document Type: Article

References (10)

1. Blom HJ, Smulders Y (2011) Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. J Inherit Metab Dis 34(1):75-81. doi: 10.1007/s10545-010-9177-4
2. Dayal S, Wilson KM, Leo L, Arning E, Bottiglieri T, Lentz SR (2006) Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia. Blood 108(7):2237-2243. doi: 10.1182/blood-2006-02-005991 (Pubitemid 44497505)
3. Forges T, Chery C, Audonnet S, Feillet F, Gueant JL (2010) Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. Mol Genet Metab 100(2):143-148. doi: 10.1016/j.ymgme. 2010.03.002
4. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10(1):111-113. doi: 10.1038/ng0595-111
5. Goyette P, Frosst P, Rosenblatt DS, Rozen R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56(5):1052-1059
6. Nakamura S, Aoshima T, Ikeda M, Sekido Y, Shimokata K, Niwa T (2002) Simultaneous detection of methylenetetrahydrofolate reductase gene polymorphisms, C677T and A1298C, by melting curve analysis with LightCycler. Anal Biochem 306(2):340-343 (Pubitemid 34791506)
7. Nishimura M, Yoshino K, Tomita Y, Takashima S, Tanaka J, Narisawa K, Kurobane I (1985) Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Pediatr Neurol 1(6):375-378 (Pubitemid 17028736)
8. Testai FD, Gorelick PB (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol 67(2):148-153. doi: 10.1001/archneurol.2009.333
9. Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H (2011) 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant. Brain Dev 33(6):521-524. doi: 10.1016/j.braindev.2010.08.013
10. Varga EA, Sturm AC, Misita CP, Moll S (2005) Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease. Circulation 111(19):e289-e293. doi: 10.1161/01.cir.0000165142.37711.e7