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    Maryland Department of Health
    Genetics

    ​Acylcarnitine Abnormalities – (Organic Acidemias and Fatty Acid Oxidation Disorders)

     
    Decreased C0: Carnitine Uptake Deficiency
     
    ACMG ACT sheet
     
    Elevated C0/C16+C18: CPT1 deficiency
     
    ACMG ACT sheet
     
    Elevated C3: Methylmalonic acidemia, Propionic acidemia, Cobalamin defects
     
     
    Note: False positives are common, particularly in babies with significant hyperbilirubinemia
     
     
    Elevated C3DC: Malonic acidemia
     
     
    Elevated C4: Short chain acyl-CoA dehydrogenase deficiency (SCADD)
     
     
    Elevated C5: Isovaleric acidemia, Short/branched chain acyl-CoA dehydrogenase deficiency
     
     
    Elevated C5DC: Glutaric Acidemia 1
     
     
    Elevated C5OH: 3-MCC deficiency (most common)
     
     
     
    Elevated C4OH: Medium/Short Chain Acyl-CoA Dehydrogenase (M/SCHAD) Deficiency:
     
     
     
    Elevated C8; C6,C10: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD):
     
     
     
    Elevated C14:1: VLCAD
     
     
     
    Elevated C16 and/or C18:1: CPT2, CACT
     
     
    Elevated C16-OH +/- C18:1-OH: LCHAD, TFP
     
     
    04/2019