Carnitine palmitoyltransferase II deficiency: Molecular and biochemical analysis of 32 patients

Neurology

Volumn 60, Issue 8, 2003, Pages 1351-1353

  Wieser, Thomas ^a   Deschauer, M ^a   Olek, K ^b   Hermann, T ^c   Zierz, S ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c F HOFFMANN LA ROCHE LTD   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; MALONYL COENZYME A; OCTOXINOL; PALMITOYL COENZYME A; POLYSORBATE 20;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TECHNIQUE;

EID: 0037461363     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000055901.58642.48     Document Type: Article

References (10)

1. Woeltje KF, Kuwajima M, Foster DW, McGarry JD. Characterization of the mitochondrial carnitine palmitoyltransferase enzyme system. J Biol Chem 1987;262:9822-9827.
2. DiMauro S, DiMauro M. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 1973;182:929-930.
3. Finocchiaro G, Taroni F, Rocchi M, et al. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 1991;88:661-665.
4. Zierz S, Engel AG. Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle. Eur J Biochem 1985;149:207-214.
5. Taroni F, Verderio E, Dworzak F, et al. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 1993;4:314-319.
6. Deschauer M, Wieser T, Schröder R, Zierz S. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2002;75:181-185.
7. Taggart RT, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 1999;13:210-220.
8. Pearson WR. Rapid and sensitive sequence comparison with FastP and FastA. Methods Enzymol 1990;183:63-98.
9. Wieser T, Deschauer M, Zierz S. Carnitine palmitoyltransferase II deficiency: three novel mutations. Ann Neurol 1997;42:414.
10. Elpeleg ON, Hammerman C, Saada A, et al. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet 2001;102:183-187.