Eighteen-Year Follow-Up of a Patient With Cobalamin F Disease (cblF): Report and Review

被引：13

作者：

Alfadhel, Majid ^{[1
,2
]}

Lillquist, Yolanda P. ^{[1
]}

Davis, Cynthia ^{[3
]}

Junker, Anne K. ^{[4
,5
]}

Stockler-Ipsiroglu, Sylvia ^{[1
]}

机构：

[1] British Columbia Childrens Hosp, Dept Pediat, Div Biochem Dis, Vancouver, BC V6H 3V4, Canada

[2] King Saud bin Abdulaziz Univ Hlth Sci, Dept Pediat, Div Genet, Riyadh, Saudi Arabia

[3] British Columbia Childrens Hosp, Dept Psychol, Vancouver, BC V6H 3V4, Canada

[4] Univ British Columbia, Dept Pediat, Div Infect & Immunol Dis, Vancouver, BC V6T 1W5, Canada

[5] Childrens & Womens Hlth Ctr British Columbia, Vancouver, BC, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 10期

关键词：

cobalamin; vitamin B(12); inborn error of metabolism; cobalamin F; AMINO-ACID LEVELS; INBORN ERROR; VITAMIN-B12; METABOLISM; CHILDREN; RELEASE; VALUES; PLASMA; DEFECT;

D O I：

10.1002/ajmg.a.34220

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long-term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment. (C) 2011 Wiley-Liss, Inc.

引用

页码：2571 / 2577

页数：7

共 16 条

[1] OBSERVED RANGE OF ASSAY VALUES FOR PLASMA AND CEREBROSPINAL-FLUID AMINO-ACID LEVELS IN INFANTS AND CHILDREN AGED 3 MONTHS TO 10 YEARS [J].

APPLEGARTH, DA ;

EDELSTEN, AD ;

WONG, LTK ;

MORRISON, BJ .

CLINICAL BIOCHEMISTRY, 1979, 12 (05) :173-178

[2] STUDY OF PLASMA FREE AMINO-ACID LEVELS .2. NORMAL VALUES FOR CHILDREN AND ADULTS [J].

ARMSTRONG, MD ;

STAVE, U .

METABOLISM-CLINICAL AND EXPERIMENTAL, 1973, 22 (04) :561-569

[3] Effects of a nutritional supplement on the immune response and cytokine production in free-living Chilean elderly [J].

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 .

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION, 2004, 28 (05) :348-354

[4]

DAS KC, 1976, CLIN HAEMATOL, V5, P697

[5] Impaired antibody responses to pneumococcal polysaccharide in elderly patients with low serum vitamin B-12 levels [J].

Fata, FT ;

Herzlich, BC ;

Schiffman, G ;

Ast, AL .

ANNALS OF INTERNAL MEDICINE, 1996, 124 (03) :299-+

[6]

MacDonald M. R., 1992, American Journal of Human Genetics, V51, pA353

[7] DEFECT IN VITAMIN-B12 RELEASE FROM LYSOSOMES - NEWLY DESCRIBED INBORN ERROR OF VITAMIN-B12 METABOLISM [J].

ROSENBLATT, DS ;

HOSACK, A ;

MATIASZUK, NV ;

COOPER, BA ;

LAFRAMBOISE, R .

SCIENCE, 1985, 228 (4705) :1319-1321

[8]

ROSENBLATT DS, 1986, PEDIATRICS, V8, P51

[9] Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism [J].

Rutsch, Frank ;

Gailus, Susann ;

Miousse, Isabelle R. ;

Suormala, Terttu ;

Sagne, Corinne ;

Toliat, Mohammad Reza ;

Nuernberg, Gudrun ;

Wittkampf, Tanja ;

Buers, Insa ;

Sharifi, Azita ;

Stucki, Martin ;

Becker, Christian ;

Baumgartner, Matthias ;

Robenek, Horst ;

Marquardt, Thorsten ;

Hoehne, Wolfgang ;

Gasnier, Bruno ;

Rosenblatt, David S. ;

Fowler, Brian ;

Nuernberg, Peter .

NATURE GENETICS, 2009, 41 (02) :234-239

[10]

SCOTT JM, 1981, LANCET, V2, P334

← 1 2 →