Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

Glossary for 3-methylcrotonyl-CoA carboxylase deficiency

  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 2 in that it originates as a defect in a different gene (MCC1 gene) but it causes the same enzyme deficiency.
  • Coma: Prolonged unconsciousness
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Lethargy: feeling of tiredness
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • No symptoms: The absence of noticable symptoms.
  • Poor feeding: Poor feeding (mostly in infants)

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise