Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2571-2577

  Alfadhel, Majid ^a,b   Lillquist, Yolanda P ^a   Davis, Cynthia ^a   Junker, Anne K ^c   Stockler Ipsiroglu, Sylvia ^a  

^a BC CHILDREN S HOSPITAL   (Canada)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Cobalamin; Cobalamin F; Inborn error of metabolism; Vitamin B 12

Indexed keywords

FOLIC ACID; GLUCOSE; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXOCOBALAMIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHOLESTEROL BLOOD LEVEL; COBALAMIN F DEFICIENCY; COLUMN CHROMATOGRAPHY; CYANOCOBALAMIN DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GLUCOSE BLOOD LEVEL; HUMAN; LABORATORY TEST; LMBRD1 GENE; LYMPHOCYTE ACTIVATION; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SYMPTOMATOLOGY; TREATMENT OUTCOME; TRIACYLGLYCEROL BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; HUMANS; IMMUNE SYSTEM; INTELLECTUAL DISABILITY; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; VITAMIN B 12 DEFICIENCY;

EID: 80053121555     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34220     Document Type: Article

References (15)

1. Applegarth DA. 1979. Observed range of assay values for plasma and cerebrospinal fluid amino acid levels in infants and children aged 3 months to 10 years. Clin Biochem 12: 173-178.
2. Armstrong MD, Stave U. 1973. A study of plasma free amino acid levels. II. Normal values for children and adults. Metabolism 22: 561-569.
3. Bunout D, Barrera G, Hirsch S, Gattas V, de la Maza MP, Haschke F, Steenhout P, Klassen P, Hager C, Avendaño M, Petermann M, Muñoz C. 2004. Effects of a nutritional supplement on the immune response and cytokine production in free-living Chilean elderly. JPEN J Parenter Enteral Nutr 28: 348-354.
4. 12-folate interrelations. Clin Haematol 5: 697-745.
5. 12 levels. Ann Intern Med 124: 299-304.
6. MacDonald MR, Wiltse HE, Bever JL, Rosenblatt DS. 1992. Clinical heterogeneity in two patients with cblF disease. Am J Hum Genet 51: A353.
7. 12 metabolism. Science 228: 1319-1321.
8. 12 metabolism (cobalamin F) presenting as methylmalonic aciduria. Pediatrics 8: 51-54.
9. 12 metabolism. Nat Genet 41: 234-239.
10. Scott JM, Dinn JJ, Wilson P, Weir DG. 1981. Pathogenesis of subacute combined degeneration: A result of methyl group deficiency. Lancet 2: 334-337.
11. 12 (cb1F): A hereditary cobalamin metabolic disorder associated with sudden death. Am J Med Genet 33: 555-563.
12. 12 treatment. Clin Exp Immunol 116: 28-32.
13. Vassiliadis A, Rosenblatt DS, Cooper BA, Bergeron JJ. 1991. Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): Visualization by electron microscope radioautography. Exp Cell Res 195: 295-302.
14. Waggoner DJ, Ueda K, Mantia C, Dowton SB. 1998. Methylmalonic aciduria (cblF): Case report and response to therapy. Am J Med Genet 79: 373-375.
15. Wong LTK, Rosenblatt DS, Applegarth DA, Davidson AGF. 1992. Diagnosis and treatment of a child with cblF disease. Clin Invest Med 15: A111.