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ACAD9

Acyl-CoA dehydrogenase 9 (ACAD9) is a protein that contributes to  breaking down fats in…

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CACT

Carnitine acylcarnitine translocase deficiency (CACT) is a rare inherited disorder that occurs when the protein that transfers…

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CPT1a

The breakdown of fats to provide energy occurs in segregated membrane-bound compartments of the cell known as mitochondria.

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CPT2

Carnitine palmitoyl transferase 2 deficiency (CPT2) is a rare inherited disorder that occurs when the last step in the entry of fats into…

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CUD

Primary carnitine deficiency occurs when the protein OCTN2 is missing or contains errors that keep it from functioning normally.

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GA2/MADD

Glutaric Acidemia Type II/Multiple Acyl-CoA Dehydrogenase Deficiency (GL2/MADD) is an inherited disorder that reduces the body’s…

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MCAD

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of a group of inherited disorders of fat metabolism…

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M/SCHAD

Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency is a rare inherited disorder of fat…

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MCKAT

Medium chain 3-ketoacyl-CoA thiolase deficiency (MCKAT) is the rarest of the many defects in the cellular…

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MTP/LCHAD

Mitochondrial trifunctional protein (MTP) deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)

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SCAD

Short chain acyl-CoA dehydrogenase (SCAD) deficiency is one of a group of inherited protein alterations…

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VLCADD

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare inherited disorder of fat  metabolism…

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