Autopsy findings in pyruvate dehydrogenase E1α deficiency: Case report

Journal of Child Neurology

Volumn 12, Issue 8, 1997, Pages 519-521

  Takahashi, Satoru ^a   Oki, Junichi ^a   Miyamoto, Akie ^a   Tokumitsu, Aya ^a   Obata, Masahiko ^a   Ogawa, Katsuhiro ^a   Tokusashi, Yoshihiko ^a   Saijo, Harumi ^b   Okuno, Akimasa ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b Asahikawa Habilitation Ctr D   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DICHLOROACETIC ACID; PYRUVATE DEHYDROGENASE;

ACUTE PANCREATITIS; ARTICLE; BRAIN DEGENERATION; BRAIN MALFORMATION; CASE REPORT; ENERGY METABOLISM; ENZYME DEFICIENCY; FACE DYSMORPHIA; FEMALE; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MALFORMATION SYNDROME; MICROCEPHALY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE;

EID: 0031415877     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389701200812     Document Type: Article

References (21)

1. Dahl HHM, Maragos C, Brown RM, et al: Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1α gene. Am J Hum Genet 1990;47:286-293.
2. Chow CW, Anderson RM, Kenny GCT: Neuropathology in cerebral lactic acidosis. Acta Neuropathol (Berl) 1987;74:393-396.
3. Michotte A, DeMeirleir L, Lissens W, et al: Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis. Acta Neuropathol (Berl) 1993;85:674-678.
4. Naito E, Kuroda Y, Takeda E, et al: Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate. Pediatr Res 1988;23:561-564.
5. Wicking CA, Scholem RD, Hunt SM, et al: Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Biochem J 1986;239:89-96.
6. Sakakihara Y, Nakamura G, Tokoeda Y, et al: A rapid microassay for dichloroacetate in serum by gel-permeation chromatography. Eur J Clin Chem Clin Biochem 1994;32:79-83.
7. Brown GK: Pyruvate dehydrogenase E1α deficiency. J Inherit Metab Dis 1992;15:625-633.
8. Ho L, Wexler ID, Kerr DS, et al: Genetic defects in human pyruvate dehydrogenase. Ann N Y Acad Sci 1989;573:347-359.
9. Brown RM, Dahl HHM, Brown GK: X chromosome localization of the functional gene for the E1 alpha subunit of the pyruvate dehydrogenase complex. Genomics 1989;4:171-181.
10. Dahl HHM, Hunt SM, Hutchinson WM, et al: The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1α subunit, sequence analysis, and characterization of the mRNA. J Biol Chem 1987;262:7398-7403.
11. DeMeirleir L, Mackay N, Wah AMLH, et al: Isolation of a full-length complementary DNA coding for human E1α subunit of the pyruvate dehydrogenase complex. J Biol Chem 1988;263:1991-1995.
12. Brown GK, Otero LJ, LeGris M, et al: Pyruvate dehydrogenase deficiency. J Med Genet 1994;31:875-879.
13. Brown RM, Fraser NJ, Brown GK: Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X linked gene. Genomics 1990;7:215-221.
14. Cremer JE, Teal HM: The activity of pyruvate dehydrogenase in rat brain during postnatal development. FEBS Lett 1974;39:17-20.
15. Kuroda Y, Hu M, Toshima K, et al: Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate. J Inherit Metab Dis 1986;9:244-253.
16. McCormick K, Viscardi RM, Robinson B, et al: Partial pyruvate decarboxylase deficiency with profound lacticacidemia and hyperammonemia. Am J Med Genet 1985;22:291-299.
17. Wells PG, Moore GW, Rabin D, et al: Metabolic effects and pharmacokinetics of intravenously administrated dichloroacetate in humans. Diabetologia 1980;19:109-113.
18. Batalden PB, Van Dyne BJ, Cloyd J: Pancreatitis associated with valproic acid therapy. Pediatrics 1979;64:520-522.
19. Wyllie E, Wyllie R, Cruse RP, et al: Pancreatitis associated with valproic acid therapy. Am J Dis Child 1984;138:912-914.
20. Coulter DL, Allen RJ: Pancreatitis associated with valproic acid therapy for epilepsy. Ann Neurol 1980;7:92.
21. Murphy MJ, Lyon LW, Taylor JW, et al: Valproic acid associated pancreatitis in an adult. Lancet 1981;1:41-42.