1556 NEONATAL CARNITINE DEFICIENCY WITH MUSCLE AND CNS DETERIORATION SECONDARY TO ABSENT 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) RESPONSIVE TO SUBSTRATE REPLACEMENT
نویسندگان
چکیده
منابع مشابه
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.
BACKGROUND Assay of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in homocysteine metabolism, is important for the study of severe and mild deficiency states. Because the conventional assay measures in the reverse direction, lacks sensitivity, and uses nonphysiologic substrates, the exact measurement and characterization of residual activity in easily accessible tissues have been di...
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Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...
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Background: The association between Methylene tetrahydrofolate reductase polymorphism and Coronary Artery diseases risk has been both confirmed and refuted in a number of published studies. The aim of this study was to investigate whether genetic polymorphisms of MTHFR (C677T, A1298C) contributed to the development of myocardial infarction (MI). Materials and Methods: The present case-contro...
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Background: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) located on the 677th nucleotide of the methylenetet...
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supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-01573