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GENATLAS PHENOTYPE
last update : 13-06-2018
Symbol ACADS
Location 12q24.3
Name ACADS deficiency
Other name(s) Short-chain acyl-CoA dehydrogenase deficiency
Corresponding gene ACADS
related resource MITOP database
Other symbol(s) SCADD
Main clinical features
  • myopathy with lipid storage, developmental delay, speech delay, hypotonia, failure to thrive, feeding difficulties, seizures, dysmorphic features, hypoglycemic encephalopathy, microcephaly, optic atrophy, hepatomegaly and jaundice, muscular hypertonia
  • neonatal features including feeding difficulties, hypotonia, lethargy, hypoglycemia, dysmorphic features, brain malformations with infantile spasms and death
  • biochemical hallmarks are elevated levels of butyrylcarnitine (C4) as detected by acylcarnitine analysis and urinary excretion of ethylmalonic acid
  • should be considered in the differential diagnosis of gyral abnormality, corpus callosal hypoplasia, and infantile spasms
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    neuromuscular
    Type disease
    Gene product
    Name acyl CoA dehydrogenase, short chain (C2-C3) (ACADS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   other E368G
    Remark(s) ACADS deficiency should be considered as a protein misfolding disorder that can lead to clinical disease in combination with other genetic and environmental factor