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Glossary for Glutaryl-CoA dehydrogenase deficiency

  • Choreoathetosis: Choreoathetosis is the occurrence of involuntary movements in a combination of chorea and athetosis.
  • 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.
  • Enlarged liver: Swelling of the liver.
  • Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Glutaricaciduria I: A rare inherited enzyme deficiency disorder where deficiency of the glutaryl-CoA dehydrogenase enzyme results in dystonia, dyskinesia and sometimes mental retardation.
  • Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Infant symptoms: Symptoms affecting babies and infants.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Opisthotonus: is a state of extreme hyperextension and spasticity of the head, neck and spinal column

 

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