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Short chain acyl-CoA dehydrogenase deficiency

Orpha number ORPHA26792
Synonym(s) SCAD deficiency
SCADD
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E71.3
OMIM
UMLS -
MeSH
  • C537596
MedDRA -
SNOMED CT -

Summary

Acyl-CoA dehydrogenase, short chain (SCAD) deficiency is an inborn error of mitochondrial short-chain fatty acid oxidation. Few patients with this disorder have been documented so far. SCAD is an electron transfer flavoprotein (ETF)-dependant enzyme, located in mitochondrial internal matrix..SCAD deficiency may present during the first weeks of life with muscle tone abnormalities, hypoglycemia and vomiting. More frequently however, it presents in a milder and aspecific form with hypotonia and developmental delay. Biochemical parameters allow to suspect this diagnosis: overexcretion of urinary ethylmalonic acid, and sometimes also of methylsuccinic acid and butyrylglycine. Butyrylcarnitine is often increased in plasma. A muscle biopsy is required to measure SCAD activity ; diagnosis can also be confirmed by molecular study of the gene. Genetic anomalies include many deletions and 2 specific mutations (625G> A and 511C>T frequently observed in general population. Thus, other genetic or environmental factors should play a role (which remains unknown) in patients who express clinical features of the disease

Expert reviewer(s)

  • Dr Christine VIANEY-SABAN
Last update: March 2004

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