Cytochrome‐
            <i>c</i>
            ‐oxidase deficiency in a floppy infant

Heiman‐Patterson, Terry; Bonilla, E.; DiMauro, Salvatore; Foreman, J.; Schotland, Donald L.

doi:10.1212/wnl.32.8.898

Cited by 76 publications

(13 citation statements)

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“…Many of the patients have lacticacidemia, but the age of onset of problems divides the patients into two groups, with presentation either in childhood or in infancy. One group with onset in infancy has Fanconi syndrome (15)(16)(17)(18)20). Others with an early onset have a combination of growth retardation and neurological problems (13,14,19,22).…”

Section: Discussionmentioning

confidence: 99%

“…These defects include deficiencies of NADHCoenzyme Q reductase (1-7), cytochrome b (8-10), succinate cytochrome c reductase (1 1, 12) and cytochrome oxidase (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25). Many of these defects are reported as being tissue-specific in that only certain tissues, usually muscle, exhibit the enzyme deficiencies; but except for two sibs with cytochrome oxidase deficiency (24), the deficit in enzyme activity is not demonstrable in fibroblasts.…”

Section: Introductionmentioning

confidence: 99%

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Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Robinson¹,

Ward²,

Goodyer³

et al. 1986

J. Clin. Invest.

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The cultured skin fibroblasts from three patients with lacticacidemia were found to have low rates of 1-1[4Cjpyruvate oxidation in the face of normal pyruvate-dehydrogenase activity. After incubation with 1 mM glucose, these three cell strains also exhibited lactate/pyruvate ratios which were three times greater than those of controls. In two of the patients, both ATP and oxygen consumption in fibroblast mitochondrial preparations was deficient with NAD-linked substrates but normal with succinate and

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Robinson¹,

Ward²,

Goodyer³

et al. 1986

J. Clin. Invest.

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“…One reported case of a fatal infantile case without Fanconi syndrome had feeding problems and elbow contractures [12]; our baby required nasogastric feeding and had increased tone in the lower limbs. Fatty liver has been described with defects in the respiratory chain [18]. Ragged red fibers are expected in these defects, but our patient never had a muscle biopsy; at least 1 case of fatal infantile disease had normal liver mitochondria [15].…”

Section: Discussion: Dr Joan Robinsonmentioning

confidence: 96%

Feeding Problems and Lactic Acidosis in a 10-Week-Old Boy

Robinson

Norman²

1989

Pediatr Neurosurg

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“…Since the original description of a mitochondrial disease by Luft et al (1) in 1962, several lesions involving distinct segments of the mitochondrial electron transport chain have been described. Specific defects in complex I (NADH-ubiquinone oxidoreductase) (2-7), complex II (succinate-ubiquinone oxidoreductase) (8), complex III (ubiquinol-cytochrome c oxidoreductase) (9,10), and complex IV (cytochrome c oxidase) (11)(12)(13)(14)(15), as well as in t Deceased. complex V (F0FIATPase) (16), have been reported. In these investigations, enzyme activities, spectrophotometric analysis of electron carriers, and/or electron paramagnetic resonance (EPR)' measurements were used to define the nature of the lesions.…”

Section: Introductionmentioning

confidence: 99%

Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.

Moreadith¹,

Cleeter²,

Ragan³

et al. 1987

J. Clin. Invest.

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Recently, we described a patient with severe lactic acidosis due to congenital complex I (NADH-ubiquinone oxidoreductase) deficiency. We now report further enzymatic and immunological characterizations. Both NADH and ferricyanide titrations of complex I activity (measured as NADH-ferricyanide reductase) were distinctly altered in the mitochondria from the patient's tissues. In addition, antisera against complex I immunoprecipitated NADH-ferricyanide reductase from the control but not the patient's mitochondria. However, immunoprecipitation and sodium dodecyl sulfate-polyacrylamide gel electrophoresis of complex I polypeptides demonstrated that the majority of the 25 polypeptides comprising complex I were present in the affected mitochondria. A more detailed analysis using subunit selective antisera against the main polypeptides of the iron-protein fragments of complex I revealed a selective absence of the 75-and 13-kD polypeptides. These findings suggest that the underlying basis for this patient's disease was a congenital deficiency of at least two polypeptides comprising the iron-protein fragment of complex I, which resulted in the inability to correctly assemble a functional enzyme complex.

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Cytochrome‐ c ‐oxidase deficiency in a floppy infant

Cited by 76 publications

References 0 publications

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.

Feeding Problems and Lactic Acidosis in a 10-Week-Old Boy

Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.

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