Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency.

Abstract:

:In a reported patient with myopathic carnitine deficiency, addition of exogenous carnitine to muscle homogenates failed to correct palmitate oxidation, and oral carnitine was of no clinical benefit. In a muscle biopsy from this patient, we found that, in contrast to the marked deficiency of free carnitine (3% of normal) short- and medium-chain acylcarnitines were in the normal range and long-chain acylcarnitine was increased almost four times. As this result confirmed the hypothesis of a muscle defect of mitochondrial oxidation of palmitate, all eight enzymes of beta-oxidation were measured spectrophotometrically in the muscle extract. None of them was found to be defective. These data suggest that the underlying biochemical abnormality in this patient may be a deficiency of the carnitine-acylcarnitine translocase system or a defective interaction between acyl-CoA dehydrogenase and its flavoprotein coenzyme.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Trevisan CP,Reichmann H,DeVivo DC,DiMauro S

doi

10.1002/mus.880080809

subject

Has Abstract

pub_date

1985-10-01 00:00:00

pages

672-5

issue

8

eissn

0148-639X

issn

1097-4598

journal_volume

8

pub_type

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