Thiamine-responsive lactic acidaemia: Role of pyruvate dehydrogenase complex

European Journal of Pediatrics

Volumn 157, Issue 8, 1998, Pages 648-652

  Naito, E ^a   Ito, M ^a   Yokota, I ^a   Saijo, T ^a   Matsuda, J ^a   Kuroda, Y ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Lactic acidaemia; Pyruvate dehydrogenase complex; Sodium dichloroacetate; Thiamine; Thiamine pyrophosphate

Indexed keywords

PYRUVATE DEHYDROGENASE; THIAMINE;

ARTICLE; CLINICAL ARTICLE; DECARBOXYLATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN CELL; INFANT; LACTIC ACIDEMIA; MALE; MUSCLE BIOPSY; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HUMANS; INFANT; LYMPHOCYTES; MALE; MUSCLE, SKELETAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; THIAMINE; THIAMINE PYROPHOSPHATE;

EID: 0031873348     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050903     Document Type: Article

References (17)

1. Bakker HD, Scholte HR, Luyt-Houwen IEM, Gennip AH van, Abeling NGGM, Lam J (1991) Neonatal cardiomyopathy and lactic acidosis responsive to thiamine. J Inherit Metab Dis 14:75-79
2. Chuang DT, Ku LS, Cox RP (1982) Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain α-keto acid dehydrogenase for α-ketoisovalerate and thiamin pyrophosphate. Proc Natl Acad Sci USA 79:3300-3304
3. Chuang DT, Hu CWC, Patel MS (1983) Induction of the branched-chain 2-oxo acid dehydrogenase complex in 3T3-L1 adipocytes during differentiation. Biochem J 214:177-181
4. DiRocco M, Patrini C, Rimini A, Romanengo M, Laforenza U, Borrone C, Rindi G (1996) Infantile thiamine-responsive cardiomyopathy due to defect of thiamine transport. J Inherit Metab Dis 19:97
5. Duran M, WadJman SK (1985) Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis 8:70-75
6. Kitamori N, Itokawa Y (1993) Pharmacokinetics of thiamin after oral administration of thiamin tetrahydrofurfuryl disulfide to humans. J Nutr Sci Vitaminol 39:465-472
7. Kuroda Y, Kline JJ, Sweetman L, Nyhan WL, Groshong TD (1979) Abnormal pyruvate and α-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia. Pediatr Res 13:928-931
8. Kuroda Y, Ito M, Toshima K, Takeda E, Naito E, Hwang TJ, Hashimoto T, Miyao M, Masuda M, Yamashita K, Adachi T, Suzuki Y, Nishiyama K (1986) Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate. J Inherit Metab Dis 9:244-252
9. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-275
10. Mascher H, Kikuta C (1993) High-performance liquid Chromatographic determination of total thiamine in human plasma for oral bioavailability studies. J Pharm Sci 82:56-59
11. Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K (1985) Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. Eur J Pediatr 143:278-283
12. Naito E, Kuroda Y, Takeda E, Yokota I, Kobashi H, Miyao M (1988) Detection of pyruvate metabolism of skin fibroblasts with dichloroacetate. Pediatr Res 23:561-564
13. Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y (1994) Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. Pediatr Res 36:340-346
14. Rindi G, Patrini C, Laforenza U, Mandel H, Berant M, Viana MB, Poggi V, Zarra ANF (1994) Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J Inherit Metab Dis 17:667-677
15. Robinson BH, Taylor J, Sherwood WG (1980) The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in a pediatric population with lactic acidosis. Pediatr Res 14:956-962
16. Robinson BH (1989) Lactic acidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 869-888
17. Toshima K, Kuroda Y, Naito E, Yokota I, Ito M, Watanabe T, Takeda E, Miyao M, Nonaka I (1985) Diagnosis of partial deficiency of pyruvate dehydrogenase complex in biopsied muscle. Neurology 35:1670-1672