Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC)

Journal of Pediatrics

Volumn 132, Issue 1, 1998, Pages 121-124

  Andersson, H C ^a   Shapira, E ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; COBALAMIN; CYANOCOBALAMIN; HOMOCYSTINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID;

ARTICLE; BODY HEIGHT; BODY WEIGHT; CARNITINE DEFICIENCY; CASE REPORT; CONTROLLED STUDY; DRUG EFFICACY; FEMALE; FIBROBLAST; GROWTH RATE; HEAD CIRCUMFERENCE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; INTRAMUSCULAR DRUG ADMINISTRATION; MALE; METHYLMALONIC ACIDURIA; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD;

EID: 0031953236     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70496-2     Document Type: Article

References (17)

1. 12 metabolism Clin Sci Mol Med 47 1974 43 61
2. SI Goodman PG Moe KB Hammond SH Mudd BW Uhlendorf Homocystinuria with methylmalonic aciduria: 2 cases in a sibship Biochem Med 4 1970 500 515
3. WA Fenton LE Rosenberg Inherited disorders of cobalamin transport and metabolism 7th ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease 1995 McGraw-Hill New York 3129 3149
4. AA Qureshi DS Rosenblatt BA Cooper Inherited disorders of cobalamin metabolism Crit Rev Oncol Hematol 17 1994 133 151
5. R Carmel AA Bedros JW Mace SI Goodman Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia Blood 55 1980 570 579
6. RM Robb BS Dowton AB Fulton HL Levy Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities Am J Ophthalmol 97 1984 691 696
7. S Shinnar HS Singer Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence N Engl J Med 311 1984 451 454
8. I Mellman HF Willard P Youngdahl-Turner LE Rosenberg Cobalamin coenzyme synthesis in normal and mutant human fibroblasts J Biol Chem 254 1979 11847 11853
9. EH Pezacka Identification and characterization of two enzymes involved in the intracellular metabolism of cobalamin Biochem Biophys Acta 1157 1993 167 177
10. F Watanabe H Saido R Yamaji K Miyatake Y Isegawa A Ito Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes J Nutr 126 1996 2947 2951
11. 12 metabolism Ann Rev Nutr 7 1987 291 320
12. 12 [abstract] Pediatr Res 6 1972 138A
13. JC Linnell B Miranda HR Bhatt SB Dowton HL Levy Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria J Inherit Metab Dis 6 1983 137 139
14. E Shapira Diagnostic tests for metabolic disorders E Shapira M Blitzer J Miller DK Africk Biochemical genetics: a laboratory manual 1989 Oxford University Press New York 89 111
15. GA Mitchell D Watkins SB Melancon DS Rosenblatt G Geoffrey J Orquin Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria J Pediatr 108 1986 410 415
16. DW Bartholomew Ml Batshaw RH Allen CR Roe D Rosenblatt DL Valle Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria J Pediatr 112 1988 32 39
17. JC Linnell DM Matthews SH Mudd BW Uhlendorf IJ Wise Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria Pediatr Res 10 1976 179