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GENATLAS PHENOTYPE
last update : 20-05-2009
Symbol ACADM
Location 1p31.1
Name medium-chain acylcarnitine deficiency
Corresponding gene ACADM
related resource MITOP database
Other symbol(s) MCADD
Main clinical features
  • dicarboxylic aciduria, non ketotic hypoglycemia, low acylcarnitine profiles, variable symptoms, from completely asymptomatic patients to Reye-like syndrome, or sudden infant death syndrome in the first year of life
    • Genetic determination autosomal recessive
    Prevalence 1/6000 to 1/10000
    Related entries including mild or even asymptomatic cases
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name acyl CoA dehydrogenase, medium chain (C6-C12) (ACADM)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mutation K329E acounting for up to 90p100 of cases
    missense   abnormal protein/gain of function A985G
    deletion   truncated protein splice mutation IVS3-1G>C
    Remark(s)