Carnitine transporter deficiency (Q91986): Difference between revisions
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A deficiência de captação de carnitina é um distúrbio de ácido graxo devido a transportadores de carnitina defeituosos, resultando em cardiomiopatia dilatada hipocinética progressiva que geralmente está associada com fraqueza muscular. Este último sinal pode ser grave e resultar em miopatia proximal e amiotrofia. Após períodos de jejum ou infecções, podem ocorrer coma associado a hipoglicemia e hipocetose ou lesões hepáticas agudas, como a síndrome de Reye. | |||
| description / en | description / en | ||
Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycaemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections. | |||
Revision as of 07:08, 16 August 2026
Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycaemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_526376450 |
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| English | Carnitine transporter deficiency |
Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycaemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections. |
