3-methylcrotonyl-CoA carboxylase 1 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.

What is 3-methylcrotonyl-CoA carboxylase 1 deficiency?

3-methylcrotonyl-CoA carboxylase 1 deficiency is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have 3-methylcrotonyl-CoA carboxylase 1 deficiency, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with 3-methylcrotonyl-CoA carboxylase 1 deficiency

Clonic seizureDysphagiaEpisodic vomitingFailure to thriveFeverGeneralised tonic-clonic seizure without focal onsetHematuriaInsomniaJaundiceNeonatal seizureSeizureTonic seizure

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.