Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

Journal of Inherited Metabolic Disease

Volumn 26, Issue 5, 2003, Pages 481-488

  Yano, S ^a   Li, L ^a   Le, T P ^b   Moseley, K ^a   Guedalia, A ^a   Lee, J ^c   Gonzalez, I ^d   Boles, R G ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c ProGene   (United States)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; CARNITINE; CELL NUCLEUS DNA; METHYLCROTONOYL COENZYME A CARBOXYLASE; METHYLMALONIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; PROPIONYL COENZYME A CARBOXYLASE; PYRUVATE CARBOXYLASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; METHYLMALONIC ACIDURIA; MITOCHONDRIAL DNA SYNDROME; MUSCLE TISSUE; PRESCHOOL CHILD; PROPIONIC ACIDEMIA; PROTEIN ASSEMBLY; PROTEIN TRANSPORT; QUANTITATIVE ANALYSIS; RESPIRATORY CHAIN; SKIN FIBROBLAST; SOUTHERN BLOTTING; URINALYSIS;

CARBON-CARBON LIGASES; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA DECARBOXYLASE; MITOCHONDRIAL DISEASES; PHENOTYPE; SYNDROME;

EID: 0041828175     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025125427868     Document Type: Article

References (20)

1. Absalon MJ, Harding CO, Fain DR, et al (2001) Leigh syndrome in an infant resulting from mitochondrial DNA depletion. Pediatr Neurol 24: 60-63.
2. Barthélémy C, de Baulny HO, Diaz J, et al (2001) Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation. Ann Neurol 49(5): 607-617.
3. Ducluzeau PH, Lachaux A, Bouvier R, et al (1999) Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 30: 149-155.
4. Figarella-Branger D, Pellissier JF, Scheiner C, et al (1992) Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108: 105-113.
5. Filiano JJ, Goldenthal MJ, Mamourian A, et al (2002) Mitochondrial DNA depletion in Leigh syndrome. Pediatr Neurol 26: 239-242.
6. Macmillan CJ, Shoubridge EA (1996) Mitochondrial DNA depletion: prevalence in pediatric population referred for neurologic evaluation. Pediatr Neurol 14: 203-210.
7. Mandel H, Hartman C, Berkowitz D, et al (2001a) The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 34: 776-784.
8. Mandel H, Szargel R, Labay V, et al (2001b) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics 29:337-341.
9. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ (1998) Hypertrophic cardiomyopathy with mitochondrial DNA depletion and respiratory enzyme defects. Pediatr Cardiol 19: 266-268.
10. Moraes CT, Shanske S, Tritschler HJ, et al (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492-501.
11. Morris AAM, Taanman JW, Blake J, et al (1998) Liver failure associated with mitochondrial DNA depletion. J Hepatol 28: 556-563.
12. Naviaux RK, Nyhan WL, Barshop BA, et al (1999) Mitochondrial DNApolymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol 45: 54-58.
13. Nishino I, Spinazzola A, Hirano M (2001) MNGIE: from nuclear DNA to mitochondrial DNA. Neuromusc Disord 1: 7-10.
14. Papadimitriou A, Comi GP, Hadjigeorgiou GM, et al (1998) Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 51: 1086-1092.
15. Saada A, Shaag A, Mandel H, et al (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature 29: 342-344.
16. Salviati L, Sacconi S, Mancuso M, et al (2002) Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 52: 311-316.
17. Scaglia F, Sutton VR, Bodamer OAF, et al (2001) Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol 16: 136-138.
18. Vu TH, Sciacco M, Tanji K, et al (1998) Clinical manifestations of mitochondrial DNA depletion. Neurology 50: 1783-1790.
19. 12: A new complementation group causing methylmalonic aciduria (cblF). Am J Hum Genet 39: 404-408.
20. Weyler W, Sweetman L, Maggio DC, Nyhan WL(1977) Deficiency of propionyl-CoA carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta 76: 321-328.