GTR Home > Conditions/Phenotypes > Deficiency of butyryl-CoA dehydrogenase

Disease characteristics

Excerpted from the GeneReview: Short-Chain Acyl-CoA Dehydrogenase Deficiency
The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question.

Associated genes

Clinical features

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  • Episodic metabolic acidosis
  • Ethylmalonic aciduria
  • Seizure
  • Failure to thrive
  • Feeding difficulties in infancy
  • External ophthalmoplegia
  • Psychosis
  • Delayed speech and language development
  • Muscular hypotonia
  • Lethargy
  • Global developmental delay
  • Flexion contracture
  • Cardiomyopathy
  • Abnormality of the cerebral white matter
  • Scoliosis
  • Myopathy
  • Facial palsy
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