Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

Human Genetics

Volumn 97, Issue 3, 1996, Pages 291-293

  Handig, Ingrid ^a   Dams, Erna ^a   Taroni, Franco ^b   Van Laere, Sabine ^a   De Barsy, Thierry ^c   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b Ist Naz Neurologico Carlo Besta   (Italy)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; LEUCINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; INBREEDING; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0030049020     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185756     Document Type: Article

References (21)

1. Bieber LL (1988) Carnitine. Annu Rev Biochem 57:261-283
2. Bonnefont J-P, Cepanec C, Munnich A, Saudubray J-M, Demaugre F (1992) Infantile form of CPT II deficiency: identification of a missense mutation in the CPT II gene. Am J Hum Genet 51:A165
3. Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98:742-746
4. Demaugre F, Bonnefont J-P, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, Di-Donato S, Saudubray J-M (1988) Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: two distinct entities. Pediatr Res 24:308-311
5. Demaugre F, Bonnefont J-P, Cepanec C, Scholte J, Saudubray J-M, Leroux JP (1990) Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 27:497-500
6. Demaugre F, Bonnefont J-P, Colonna M, Cepanec C, Leroux J-P, Saudubray J-M (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach 10 carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859-864
7. DiMauro S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency. In: Engel AG, Banker BQ (eds) Myology 1st edn. McGraw-Hill, New York, pp 1697-1708
8. Falik-Borenstein ZC, Jordan SC, Saudubray J-M, Brivet M, Demaugre F, Edmond J, Cederbaum SD (1992) Brief report: renal tubular acidosis in carnitine palmitoyltransferase type I deficiency. N Engl J Med 327:24-27
9. Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S (1991) cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88:661-665
10. Gellera C, Witt DR, Verderio E, Cavadini P, DiDonato S, Taroni F (1992) Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. Am J Hum Genet 51:A168
11. Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F (1994) Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32. Genomics 24: 195-197
12. Hug G, Bove KE, Soukup S (1991) Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325:1862-1864
13. Kelly KJ, Garland JS, Tang TT, Shug AL, Chusid MJ (1989) Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency. Pediatrics 84:312-316
14. McGarry JD, Woeltje KF, Kuwajima M, Foster DW (1989) Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase. Diabetes Metab Rev 5:271-284
15. Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S (1992) Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89:8429-8433
16. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S (1993) Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314-320
17. Taroni F, Gellera C, Cavadini P, Baratta S, Lamantea E, Dethlefs S, DiDonato S, Reik RA, Benke PJ (1994) Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular genetic study. Am J Hum Genet 55:A245
18. Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F (1995) Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4:19-29
19. Witt DR, Theobald M, Santa-Maria M, Packman S, Townsend S, Sweetman L, Goodman S, Rhead W, Hoppel C (1991) Carnitine palmitoyltransferase-type 2 deficiency: two new cases and succesful prenatal diagnosis. Am J Hum Genet 49:A109
20. Woeltje KF, Esser V, Weis BC, Cox WF, Schroeder JG, Liao S-T, Foster DW, McGarry JD (1990) Intertissue and interspecies characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system. J Biol Chem 265:10714-10719
21. Zinn AB, Hoppel CL (1991) An unusual form of carnitine palmitoyltransferase B (CPT-B) deficiency associated with neonatal cardiomyopathy and renal dysorganogenesis. Am J Hum Genet 49:A109