Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Journal of Clinical Neuroscience

Volumn 21, Issue 10, 2014, Pages 1815-1817

  Kandula, Tejaswi ^a,d   Peters, Heidi ^b   Fahey, Michael ^a,c  

^a MONASH MEDICAL CENTRE   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c MONASH UNIVERSITY   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

cblE; Cobalamin; Homocysteine; Leukoencephalopathy; Vitamin B12

Indexed keywords

BETAINE; COBALAMIN DERIVATIVE; COBALAMIN E; CYANOCOBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; METHIONINE; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; CASE REPORT; CONSTIPATION; CYANOCOBALAMIN DEFICIENCY; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; DRUG MEGADOSE; EARLY DIAGNOSIS; EARLY INTERVENTION; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEMATOLOGIC DISEASE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INFANTILE HYPOTONIA; LETHARGY; LEUKOENCEPHALOPATHY; MALE; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PATHOLOGICAL REFLEX; VISUAL DISORDER; VITAMIN METABOLISM; VOMITING; WHITE MATTER LESION; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; DISEASE COURSE; FOLLOW UP; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; DISEASE PROGRESSION; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; FOLLOW-UP STUDIES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; VITAMIN B 12;

EID: 84908551125     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2013.12.030     Document Type: Article

References (8)

1. Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet Part C Semin Med Genet 2011;157C:33-44.
2. Wilcken B. Leukoencephalopathies associated with disorders of cobalamin and folate metabolism. Semin Neurol 2012;32:68-74.
3. Zavadáková P, Fowler B, Suormala T, et al. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat 2005;25:239-47.
4. Steen C, Rosenblatt DS, Scheying H, et al. Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine. J Inherit Metab Dis 1997;20:705-6.
5. Zavadáková P, Fowler B, Zeman J, et al. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis 2002;25:461-76.
6. Fowler B, Schutgens RB, Rosenblatt DS. Folate responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). J Inherit Metab Dis 1997;20:731-41.
7. Vilaseca MA, Vilarinho L, Zavadáková P, et al. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis 2003;26:361-9.
8. Rosenblatt DS, Cooper BA, Schmutz SM, et al. Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). Lancet 1985;1:1127-9.