Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency

Neuropediatrics

Volumn 31, Issue 6, 2000, Pages 314-317

  Baethmann, M ^a   Wendel, U ^a   Hoffmann, G F ^a   Gohlich Ratmann G ^a   Kleinlein, B ^a   Seiffert, P ^a   Blom, H ^a   Voit, T ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Homocysteine; Hydrocephalus internus in metabolic disorders; Methylenetetrahydrofolate; Single carbon metabolism

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; FOLIC ACID; HOMOCYSTEINE; METHIONINE; S ADENOSYLMETHIONINE;

ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; DEMYELINATION; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEMALE; HOMOCYSTINURIA; HUMAN; HYDROCEPHALUS; HYPERHOMOCYSTEINEMIA; INTRACRANIAL HYPERTENSION; MALE; METABOLIC DISORDER; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

5,10-METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CEREBRAL VENTRICLES; DEMYELINATING DISEASES; FEMALE; HOMOCYSTEINE; HUMANS; HYDROCEPHALUS; HYPERHOMOCYSTEINEMIA; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES;

EID: 0034466988     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-12947     Document Type: Article

References (19)

1. Computed tomography and magnetic resonance imaging of the brain in Hurler's disease
2. Progressive neonatal leukoencephalopathy due to absent methylenetetrahydrofolate reductase
3. Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency
4. Mukopolysaccharidosen, Nosologie - Klinik - Therapieansätze
5. Early manifestations of multiple sulfatase deficiency
6. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia
7. MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency
8. Folate responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity
9. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency
10. Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: A case in an infant responding to methionine, folinic acid, pyridoxine and vitamin B12 therapy
11. Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers
12. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency
13. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency
14. Morphologic studies in a patient with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
15. Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency
16. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
17. Intermittent encephalopathy, reversible nerve conduction slowing and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency
18. Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
19. Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency