Medium Chain Acyl CoA Dehydrogenase Deficiency

SWAlexander

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Synonyms of Medium Chain Acyl CoA Dehydrogenase Deficiency
  • MCAD deficiency
  • ACADM deficiency
  • MCADH deficiency
  • medium chain acyl-coenzyme A dehydrogenase deficiency
  • MCADD
Secondary symptoms of MCADD that can develop after a person has experienced one or multiple metabolic crises are caused by damage to body tissues due to the hypoglycemic conditions during the events. These can include lasting muscle weakness and pain, as well as reduced tolerance to exercise. Affected individuals may acquire such brain disorders as an inability to understand or use language (aphasia) and attention deficit disorder due to damage to the brain. Women with MCADD may experience pregnancy complications such as HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count).
Causes
MCADD is a genetic disorder of mitochondrial fatty acid beta-oxidation. This means that fats in the body cannot efficiently be broken down and used for energy. The body relies on glucose (a sugar) for energy, and during times when the amount of glucose in the blood is too low, the body can break down fat stores and convert them to glucose. Enzymes called acyl-coenzyme A dehydrogenases are necessary for one of the steps in the biochemical pathway by which fat is broken down into glucose. Medium chain acyl-coenzyme A dehydrogenase (MCAD) is one of these enzymes.
More at: https://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/
 

Pyrrhus

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Also note that the acronym MCAD is an older umbrella term for Mast Cell Activation Disorder - which itself is not to be confused with Mast Cell Activation Syndrome (MCAS):

WHAT ARE MAST CELL DISEASES?
MCD, MCAD, MCAS… there are so many acronyms in the mast cell disease community, and they can be confusing. Let’s clarify so we can all understand each other. Mast cell disease(s) (MCD) is the term used by mast cell specialists in the U.S. and internationally for all mast cell diseases. This covers each variant: systemic mastocytosis (SM), cutaneous mastocytosis (CM), smoldering mastocytosis (SSM), advanced disease variants, mast cell activation syndrome (MCAS) and hereditary alpha tryptasemia (HaT). Since MCD covers all variants of mast cell disease, it is inclusive of every patient suffering from any type of mast cell disease. The American Initiative in Mast Cell Diseases (AIM) also chose their name to represent all mast cell diseases. MCAD is an older term used by some that meant mast cell activation disorder. Some physicians and patients still use the term disorder as we all slowly transition to disease. MCAS is a specific syndrome with diagnostic criteria to define it and is not interchangeable with MCAD. We can all work and learn together.
Source: https://tmsforacure.org/overview/