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Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
All of which cause the enzyme to function differently in the mitochondria, or in some cases not at all. [4] Due to this mutation, effective levels of very long-chain-acyl-CoA-dehydrogenase are low or absent in the body, giving rise to the array of symptoms listed above.
In addition to the fetal complications, they can also cause complications for the mother during pregnancy. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD, and VLCADD [5] Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency
The mutation is recessive, and often parents of children who have the deficiency can be diagnosed afterward as carriers. [3] In humans the most common naturally occurring mutation in MCAD is located at amino acid residue Lys-304. [1] The altered residue occurs as a result of a single-point mutation in which the lysine side chain is replaced by ...
In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2]
Diagnoses are typically made based on newborn screening done from blood obtained using a heel prick at birth. Prior to widespread inclusion of FAO (fatty acid oxidation) disorders in newborn screening tests, diagnosis typically occurred as a result of children presenting for medical attention having hypoglycemic hypoketotic crisis.
Even before this week's devastating wildfires left thousands of structures in smoldering ruins across some of the most affluent Los Angeles neighborhoods, the state of California faced an ...
Problems related to 3-hydroxyacyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most ...