Short Communication
Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
B. Garavaglia,
B. Garavaglia
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author V. Colamaria,
V. Colamaria
Neurologia, Ospedale Borgo Roma, Verona, Italy
Search for more papers by this author F. Carrara,
F. Carrara
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author P. Tonin,
P. Tonin
Neurologia, Ospedale Borgo Roma, Verona, Italy
Search for more papers by this author M. Rimoldi,
M. Rimoldi
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author G. Uziel,
G. Uziel
Divisione di Neuropsichiatria Infantile, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author
B. Garavaglia,
B. Garavaglia
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author V. Colamaria,
V. Colamaria
Neurologia, Ospedale Borgo Roma, Verona, Italy
Search for more papers by this author F. Carrara,
F. Carrara
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author P. Tonin,
P. Tonin
Neurologia, Ospedale Borgo Roma, Verona, Italy
Search for more papers by this author M. Rimoldi,
M. Rimoldi
Divisione di Biochimica e Genetica, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author G. Uziel,
G. Uziel
Divisione di Neuropsichiatria Infantile, Istituto Neurologico ‘C.Besta’, Milan, Italy
Search for more papers by this author
First published: 01 May 1994
No abstract is available for this article.
References
- 1Burlina AB, Zacchello F, Dionisi-Vici C et al (1991) New clinical phenotype of branched chain acyl-CoA oxidation defect. Lancet, 338: 1522–1523.
- 2Christensen E, Brandt NJ, Schmalbruch H et al (1993) Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inher Metab Dis, 16: 553–556.
- 3(1987) VM Darley-Usmar, D Rickwood, MT Wilson, eds. Mitochondria, a practical approach, Washington DC: IRL Press.
- 4Di Donato S, Frerman FE, Rimoldi M et al (1986) Systemic carnitine deficiency due to lack of electron transfer flavoprotein: ubiquinone oxidoreductase. Neurology, 36: 957–963.
- 5Frerman FE, Goodman SI (1985) Fluorimetric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem Med, 33: 38–44.
- 6Lehnert W, Ruitenbeek W (1993) Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency. J Inher Metab Dis, 16: 557–559.
