We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion. (J Child Neurol 2001;16:136-138).
Get full access to this article
View all access options for this article.
References
1.
Moraes CT, Shanske S., Tritschler H-J., et al: mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. Am J Hum Genet1991;48:492-501.
2.
Mazziotta Mrm , Ricci E., Bertini E., et al: Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr1992;121: 896-901.
3.
Tritschler H-J. , Andreetta F., Moraes CT, et al: Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology1992;42:209-217.
4.
Vu TH, Sciacco M., Tanji K., et al: Clinical manifestations of mitochondrial DNA depletion. Neurology1998;50:1783-1790.
5.
Naviaux RK: The mitochondrial DNA depletion syndromes, in Nyhan WL, Ozand P (eds): Atlas ofmetabolic Diseases. London, New York, Chapman and Hall Medical, 1998, 314-320.
6.
Taanman J-W. , Bodnar AG, Cooper JM, et al: Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet1997 ;6: 935-942.
7.
Spelbrink JN , Van Galen MJM, Zwart R., et al: Familial mitochondrial DNA depletion in liver: Haplotype analysis of candidate genes. Hum Genet1998;102:327-331.
8.
Figarella-Branger D., Pellissier JF, Scheiner C., et al: Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement . J Neurol Sci1992 ;108:105-113.
9.
Sweetman L., Williams JC: Branched chain organic acidurias, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995, 1387-1422.
10.
Gibson KM, Bennett MJ, Mize CE, et al: 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr1992 ;121:940-942.
11.
King TE, Howard RL: Preparation and properties of NADH dehydrogenase from cardiac muscle , in Estabrook R, Pullman M (eds): Methods in Enzymology: Oxidation and Phosphorylation . Vol. 10. New York, Academic Press, 1967, 275-294.
12.
King TE: Preparation of succinate dehydrogenase and reconstitution of succinate oxidase , in Estabrook R, Pullman M (eds): Methods in Enzymology: Oxidation and Phosphorylation . Vol. 10. New York, Academic Press, 1967, 322-331.
13.
Yonetan T.: Cytochrome oxidase: Beef heart, in Estabrook R, Pullman M (eds): Methods in Enzymology: Oxidation and Phosphorylation. Vol. 10. New York, Academic Press, 1967, 332-335.
14.
Srere PA: Citrate synthase, in Lowenstein J (ed): Methods in Enzymology. Vol. 13. New York, Academic Press, 1969, 3-11.
15.
Wang L., Hirayasu K., Ishizawa M., Kobayashi Y.: Purification of genomic DNA from human whole blood by isopropanol-fractionation with concentrated NaI and SDS. Nucleic Acids Res1994;22:1774-1775.
16.
Morris Aam, Taanman J-W., Blake J., et al: Liver failure associated with mitochondrial DNA depletion. J Hepatol1998;28:556-563.
17.
Naviaux RK, Nyhan WL, Barshop BA, et al: Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol1999;45:54-58.
18.
Larsson N-G. , Oldfors A., Holme E., Clayton DA: Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun1994;200:1374-1381.
