A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220-I222dup mutations in the OXCT1 gene

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Fukao, Toshiyuki ^a,b,c   Ishii, Tomohiro ^d   Amano, Naoko ^d   Kursula, Petri ^e   Takayanagi, Masaki ^f   Murase, Keiko ^a   Sakaguchi, Naomi ^a   Kondo, Naomi ^a   Hasegawa, Tomonobu ^d  

^a GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c NAGARA MEDICAL CENTER   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e UNIVERSITY OF OULU   (Finland)

^f CHIBA CHILDREN'S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3-KETOACID COA-TRANSFERASE; BICARBONATE; COENZYME A TRANSFERASE; GLUCOSE; 3 OXOACID COENZYME A TRANSFERASE;

ACIDOSIS; BLOOD; CASE REPORT; CELL CULTURE; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HUMAN; INFANT; INTRAVENOUS DRUG ADMINISTRATION; JAPAN; KETOSIS; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; RECURRENT DISEASE; TIME; TREATMENT OUTCOME; ARTICLE; KETOACIDOSIS;

ACIDOSIS; CELLS, CULTURED; CHILD, PRESCHOOL; COENZYME A-TRANSFERASES; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GLUCOSE; HUMANS; INFANT; INFANT, NEWBORN; INFUSIONS, INTRAVENOUS; JAPAN; KETOSIS; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; RECURRENCE; SODIUM BICARBONATE; TIME FACTORS; TRANSFECTION; TREATMENT OUTCOME;

EID: 84897955527     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9168-5     Document Type: Article

References (27)

1. Adams PD, Afonine PV, Bunkoczi G et al. (2010) PHENIX: a comprehensive Python-based system for macromolecular structure solution. Acta Crystallogr D Biol Crystallogr 66:213-221
2. Berry GT, Fukao T, Mitchell GA et al. (2001) Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis 24:587-595
3. Bonnefont JP, Specola NB, Vassault A et al. (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypoand hyperketotic states. Eur J Pediatr 150:80-85
4. Cornblath M, Gingell RL, Fleming GA, Tildon JT, Leffler AT, Wapnir RA (1971) A new syndrome of ketoacidosis in infancy. J Pediatr 79:413-418
5. Emsley P, Cowtan K (2004) Coot: model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 60:2126-2132
6. Fukao T, Song XQ, Watanabe H et al. (1996) Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. Prenat Diagn 16:471-474
7. Fukao T, Song XQ, Mitchell GA et al. (1997) Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42:498-502
8. Fukao T, Mitchell GA, Song XQ et al. (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
9. Fukao T, Shintaku H, Kusubae R et al. (2004) Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoATransferase (SCOT) do not show permanent ketosis. Pediatr Res 56:858-863
10. Fukao T, Sakurai S, Rolland MO et al. (2006) A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. Mol Genet Metab 89:280-282
11. Fukao T, Kursula P, Owen EP, Kondo N (2007) Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab 92:216-221
12. Kassovska-Bratinova S, Fukao T, Song XQ et al. (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
13. Longo N, Fukao T, Singh R et al. (2004) Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J Inherit Metab Dis 27:691-692
14. Merron S, Akhtar R (2009) Management and communication problems in a patient with succinyl-CoA transferase deficiency in pregnancy and labour. Int J Obstet Anesth 18:280-283
15. Mitchell GA, Fukao T (2001) Chapter 102. Inborn errors of ketone body catabolism. In: Scriver CR, Beaudet al., Sly WS, Valle D (eds) Metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill Inc, New York, pp 2327-2356
16. Niezen-Koning KE, Wanders RJ, Ruiter JP et al. (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
17. Perez-Cerda C, Merinero B, Sanz P et al. (1992) A new case of succinyl-CoA: acetoacetate transferase deficiency. J Inherit Metab Dis 15:371-373
18. Pretorius CJ, Loy Son 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
19. Rolland MO, Guffon N, Mandon G, Divry P (1998) Succinyl-CoA: acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies. J Inherit Metab Dis 21:687-688
20. Sakazaki H, Hirayama K, Murakami S et al. (1995) A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency. J Inherit Metab Dis 18:323-325
21. 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
22. Snyderman SE, Sansaricq C, Middleton B (1998) Succinyl-CoA:3-ketoacid CoA-transferase deficiency. Pediatrics 101:709-711
23. 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
24. Song XQ, Fukao T, Mitchell GA et al. (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
25. Song XQ, Fukao T, Watanabe H et al. (1998) Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum Mutat 12:83-88
26. Tildon JT, Cornblath M (1972) Succinyl-CoA: 3-ketoacid CoAtransferase deficiency. A cause for ketoacidosis in infancy. J Clin Invest 51:493-498
27. Yamada K, Fukao T, Zhang G et al. (2007) Single-base substitution at the last nucleotide of exon 6 (c.671G > A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab 90:291-297