Defects of pyruvate metabolism and the Krebs cycle

Journal of Child Neurology

Volumn 17, Issue SUPPL. 3, 2002, Pages

  De Meirleir, Linda ^a  

^a FREE UNIVERSITY OF BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANTICONVULSIVE AGENT; ASPARTIC ACID; CARBOXYLIC ACID; CITRIC ACID; CLONAZEPAM; CORTICOTROPIN; DICHLOROACETIC ACID; FUMARATE HYDRATASE; GLUTAMIC ACID; LACTIC ACID; LAMOTRIGINE; PYRUVATE CARBOXYLASE; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; THIAMINE;

ARTICLE; BLOOD ANALYSIS; BRAIN MALFORMATION; BRAIN METABOLISM; BRAIN VENTRICLE; CEREBROSPINAL FLUID LEVEL; CHILD; CITRIC ACID CYCLE; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DIAGNOSTIC PROCEDURE; DIET THERAPY; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INFANTILE SPASM; KETOGENIC DIET; LACTATE BLOOD LEVEL; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SEIZURE; SEX DIFFERENCE; URINALYSIS; WEST SYNDROME;

BRAIN; CITRIC ACID CYCLE; DIAGNOSIS, DIFFERENTIAL; FUMARATE HYDRATASE; HUMANS; MAGNETIC RESONANCE IMAGING; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; PYRUVIC ACID; SEIZURES; SEX FACTORS;

EID: 0036998242     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Nissenkorn A, Michelson M, Ben-Zeev B, Lerman-Sagie T: Inborn errors of metabolism: A cause of abnormal brain development. Neurology 2001;56:1265-1272.
2. Bamforth FJ, Bamforth JS, Applegarth DA: Structural anomalies in patients with inherited metabolic diseases. J Inherit Metab Dis 1994;17:330-332.
3. Perry TL, Haworth JC, Robinson BH: Brain amino acid abnormalities in pyruvate carboxylase deficiency. J Inherit Metab Dis 1985;8:63-66.
4. Walker ME, Baker E, Wallace JC, Sutherland GR: Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridization. Cytogenet Cell Genet 1995;69: 187-189.
5. Carbone MA, MacKay N, Ling M, et al: Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet 1998;62:1312-1319.
6. Van Coster RN, Fernhoff PM, De Vivo DC: Pyruvate carboxylase deficiency: A benign variant with normal development. Pediatr Res 1991;30:1-4.
7. Baumgartner ER, Suormala T: Multiple carboxylase deficiency: Inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res 1997;167:377-384.
8. Brun N, Robitaille Y, Grignon A, et al: Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet 1999;84:94-101.
9. Robinson BH: Lactic acidemia: Disorders of pyruvate carboxylase and pyruvate dehydrogenase, in Scriver CR, Sly WS, Childs B (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York, McGraw-Hill, 2001.
10. Rutledge SL, Snead OC, Kelly DR, et al: Pyruvate carboxylase deficiency: Acute exacerbation after ACTH treatment of infantile spasms. Pediatr Neurol 1989;5:249-252.
11. Ahmad A, Kahler SG, Kishnani OS, et al: Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. Am J Med Genet 1999;87:331-338.
12. Aral B, Benelli C, Ait-Ghezala G, et al: Mutations in PDX1, the human lipoyl-containing component X of pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. Am J Hum Genet 1997;61:1318-1326.
13. Brown RM, Dahl HH, Brown GK: X-chromosome localization of the functional gene for the E1-alpha subunit of the human pyruvate dehydrogenase complex. Genomics 1989;4:174-181.
14. De Meirleir L, Specola N, Seneca S, Lissens W: Pyruvate dehydrogenase E1alpha deficiency in a family: Different clinical presentation in two siblings. J Inherit Metab Dis 1998;21:224-226.
15. De Meirleir L, Lissens W, Vamos E, Liebaers I: Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1α subunit. Hum Genet 1992;188:649-652.
16. Robinson BH, MacMillan H, Petrova-Benedict R, Sherwood WG: Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 1987;111: 525-533.
17. Naito E, Ito M, Yokota I, et al: Concomitant administration of sodium dichloroacetate and thiamin in West syndrome caused by thiamin-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci 1999;171:56-59.
18. Canafoglia L, Franceschetti S, Antozzi C, et al: Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001;156:1340-1346.
19. De Meirleir L, Lissens W, Denis R, et al: Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis. Pediatr Neurol 1993;9:216-220.
20. Lissens W, De Meirleir L, Seneca S, et al: Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 2000;15:209-219.
21. Michotte A, De Meirleir L, Lissens W, et al: Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis. Acta Neurapathol 1993;185: 674-678.
22. Naito E, Ito M, Yokota I, et al: Thiamin-responsive lactic acidaemia: Role of pyruvate dehydrogenase complex. Eur J Pediatr 1998;157:648-652.
23. Stacpoole PW, Barnes CL, Hurbanis MD, et al: Treatment of congenital lactic acidosis with dichloroacetate. Arch Dis Child 1997; 77:535-541.
24. Weber TA, Antognetti MR, Stacpoole PW. Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. J Pediatr 2001;1138:390-395.
25. Wexler ID, Hemalatha SG, McConnell J, et al: Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations. Neurology 1997;49: 1655-1661.
26. Elpeleg ON, Shaag A, Glustein JZ, et al: Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence. Hum Mutat 1997;110:256-257.
27. De Meirleir L, Lissens W, Benelli C, et al: Pyruvate dehydrogenase complex deficiency and absence of subunit X. J Inherit Metab Dis 1998;21:9-16.
28. Coughlin EM, Christensen E, Kunz PL, et al: Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 1998;63:254-262.
29. Zinn AB, Kerr DS, Hoppel CL: Fumarase deficiency: A new cause of mitochondrial encephalopathy. N Engl J Med 1986;315:469-475.
30. Petrova-Benedict R, Robinson BH, Stacey TE, et al: Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. Am J Hum Genet 1987;40:257-266.
31. Gellera C, Uziel G, Rimoldi M, et al: Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 1990;40: 495-499.
32. Bourgeron T, Chretien D, Poggi-Bach J, et al: Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 1994;93:2514-2518.
33. Kerrigan JF, Aleck KA, Tarby TJ, et al: Fumaric aciduria: Clinical and imaging features. Ann Neurol 2000;47:583-588.
34. Naito E, Ito M, Yokota I, et al: Thiamin-responsive lactic acidaemia: Role of pyruvate dehydrogenase complex. Eur J Pediatr 1998;157: 648-652.