ACAD9
Acyl-CoA dehydrogenase 9 (ACAD9) is a protein that contributes to breaking down fats in…
CACT
Carnitine acylcarnitine translocase deficiency (CACT) is a rare inherited disorder that occurs when the protein that transfers…
CPT1a
The breakdown of fats to provide energy occurs in segregated membrane-bound compartments of the cell known as mitochondria.
CPT2
Carnitine palmitoyl transferase 2 deficiency (CPT2) is a rare inherited disorder that occurs when the last step in the entry of fats into…
CUD
Primary carnitine deficiency occurs when the protein OCTN2 is missing or contains errors that keep it from functioning normally.
GA2/MADD
Glutaric Acidemia Type II/Multiple Acyl-CoA Dehydrogenase Deficiency (GL2/MADD) is an inherited disorder that reduces the body’s…
HMG-CoA
Ketone bodies represent an important energy source and can contribute significantly to the energy supply of the brain.
MCAD
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of a group of inherited disorders of fat metabolism…
M/SCHAD
Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency is a rare inherited disorder of fat…
MCKAT
Medium chain 3-ketoacyl-CoA thiolase deficiency (MCKAT) is the rarest of the many defects in the cellular…
MTP/LCHAD
Mitochondrial trifunctional protein (MTP) deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)
SCAD
Short chain acyl-CoA dehydrogenase (SCAD) deficiency is one of a group of inherited protein alterations…
VLCADD
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare inherited disorder of fat metabolism…
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