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Glossary for 2-methylbutyryl-coenzyme A dehydrogenase deficiency

  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • Coma: Prolonged unconsciousness
  • Irritability: Excessive feelings of annoyance or frustration.
  • Lethargy: feeling of tiredness
  • Poor feeding: Poor feeding (mostly in infants)
  • Poor growth: Poor body growth or delayed physical development.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Vomiting: Vomiting or retching symptoms.


 » Next page: Nemaline myopathy

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