# Deficiência de acil-CoA desidrogenase de cadeia longa

> Página oficial: https://raras.org/doenca/deficiencia-de-acil-coa-desidrogenase-de-cadeia-longa
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 99900 — https://www.orpha.net/en/disease/detail/99900

## Descrição clínica

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

## Epidemiologia e herança


## Ensaios clínicos ativos (1)

- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT05411835** [COMPLETED]: Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders — https://clinicaltrials.gov/study/NCT05411835
- **NCT02517307** [COMPLETED]: Fatty Acid Oxidation Defects and Insulin Sensitivity — https://clinicaltrials.gov/study/NCT02517307
- **NCT05910151** [UNKNOWN]: Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan — https://clinicaltrials.gov/study/NCT05910151
- **NCT01494051** [COMPLETED]: High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders — https://clinicaltrials.gov/study/NCT01494051
- **NCT00983788** [COMPLETED]: Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects — https://clinicaltrials.gov/study/NCT00983788

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Deficiência de acil-CoA desidrogenase de cadeia longa. Disponível em: https://raras.org/doenca/deficiencia-de-acil-coa-desidrogenase-de-cadeia-longa
**Formato HTML**: https://raras.org/doenca/deficiencia-de-acil-coa-desidrogenase-de-cadeia-longa
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=99900