An early onset form of methylenetetrahydrofolate reductase deficiency: A report of a family from Kuwait

Brain and Development

Volumn 24, Issue 5, 2002, Pages 304-309

  Al Tawari, Asma A ^a   Ramadan, Dina G ^a   Neubauer, David ^b   Heberle, Lada Cindro ^a   Al Awadi, Fatema ^a  

^a AL SABAH HOSPITAL   (Kuwait)

^b University Children Hospital Ljubljana   (Slovenia)

Author keywords

Homocystinuria; Hypomethionemia; Methionine; Methylenetetrahydrofolate reductase deficiency

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; CARNITINE; CYANOCOBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; PYRIDOXINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HUMAN; IMAGE ANALYSIS; INFANT; KUWAIT; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; SKIN MANIFESTATION; TREATMENT OUTCOME; BRAIN; CHROMOSOME DISORDER; CONSANGUINITY; ENZYMOLOGY; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SKIN;

AMINE OXIDOREDUCTASES; BRAIN; CASE REPORT; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CONSANGUINITY; FEMALE; HUMAN; INFANT; INFANT, NEWBORN; KUWAIT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SKIN; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 0036020709     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(02)00062-1     Document Type: Article

References (10)

1. Remethylation defects: Guidelines for clinical diagnosis and treatment
2. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlation in severe methylenetetrahydrofolate reductase deficiency
3. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR
4. Methylmalonic acidemia, cobalamine C type, presenting with cutaneous manifestations
5. Demyelination and decreased S-methylenetetrahydrofolate reductase deficiency
6. MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency
7. Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency
8. Rapid diagnosis and methionine administration: Basis for favourable outcome in a patient with methylenetetrahydrofolate reductase deficiency
9. Intermittent encephalopathy, reversible nerve conduction slowing and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency
10. Methylenetetrahydrofolate reductase deficiency: Importance of early diagnosis