Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis

Pediatric Research

Volumn 56, Issue 6, 2004, Pages 858-863

  Fukao, Toshiyuki ^a   Shintaku, Haruo ^b   Kusubae, Ryou ^c   Zhang, Gai X ^a   Nakamura, Kozue ^a   Kondo, Masashi ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b School of Medicine   (Japan)

^c Kagoshima Prefectural Oshima Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; 3 OXOACID COENZYME A TRANSFERASE; ACETOACETIC ACID; KETONE BODY;

ARTICLE; BLOOD GAS ANALYSIS; BLOOD PH; CARBOHYDRATE INTAKE; CASE REPORT; CONTROLLED STUDY; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEVER; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; KETOACIDOSIS; LABORATORY TEST; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; TEMPERATURE SENSITIVITY; UNCONSCIOUSNESS; UPPER RESPIRATORY TRACT INFECTION; VOMITING;

CHILD; COENZYME A-TRANSFERASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FASTING; HOMOZYGOTE; HUMANS; INFANT; KETONE BODIES; KETOSIS; MALE; POINT MUTATION; POSTPRANDIAL PERIOD; SEVERITY OF ILLNESS INDEX;

EID: 9244251036     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000145297.90577.67     Document Type: Article

References (21)

1. Mitchell GA, Fukao T 2001 Inborn errors of ketone body catabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and Molecular Bases of Inherited Disease, 8th Ed. McGraw-Hill, New York, pp 2327-2356
2. Tildon JT, Cornblath M 1972 Succinyl-CoA:3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy. J Clin Invest 51:493-498
3. Spence MW, Murphy MG, Cook HW, Ripley BA, Embil JA 1973 Succinyl-CoA:3-ketoacid CoA-transferase deficiency: a new phenotype. Pediatr Res 7:394
4. Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R 1987 Hyperketotic states due to inherited defects of ketolysis. Enzyme 38:80-90
5. Middleton B, Day R, Lombes A, Saudubray JM 1987 Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA-transferase. J Inherit Metab Dis 10:273-275
6. Perez-Cerda C, Merinero B, Sanz P, Jimenez A, Hernandez C, Garcia MJ, Ugarte M 1992 A new case of succinyl-CoA:acetoacetate transferase deficiency. J Inherit Metab Dis 15:371-373
7. Sakazaki H, Hirayama K, Murakami S, Yonezawa S, Shintaku H, Sawada Y, Fukao T, Watanabe H, Orii T, Isshiki G 1995 A new Japanese case of succinyl-CoA:3-ketoacid CoA-transferase deficiency. J Inherit Metab Dis 18:323-325
8. Fukao T, Song XQ, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M, Orii T, Kondo N 1996 Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. Prenat Diagn 16:471-474
9. Pretorius CJ, Loy Song GG, Bonnici F, Harley EH 1996 Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts. J Inherit Metab Dis 19:296-300
10. Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP 1997 Succinyl-CoA: acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr 156:870-873
11. Snyderman SE, Sansaricq C, Middleton B 1998 Succinyl-CoA:3-oxoacid CoA transferase deficiency. Pediatrics 101:709-711
12. Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N 2000 Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 68:144-151
13. Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ 2001 Neonatal hypoglycemia in severe succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis 24:587-595
14. Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Perez-Cerda C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA 1996 Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am J Hum Genet 59:519-528
15. Song XQ, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJ, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N 1997 Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. Biochim Biophys Acta 1360:151-156
16. Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA 1998 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum Mutat 12:83-88
17. Fukao T, Song XQ, Yamaguchi S, Hashimoto T, Orii T, Kondo N 1996 Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts. Pediatr Res 39:1055-1058
18. Williamson DH, Bates MW, Page MA, Krebs HA 1971 Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues. Biochem J 121:41-47
19. Niwa H, Yamamura K, Miyazaki J 1991 Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-199
20. Song XQ, Fukao T, Yamaguchi S, Miyazawa S, Hashimoto T, Orii T 1994 Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. Biochem Biophys Res Commun 201:478-485
21. Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JBC, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM 1990 The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150:80-85