List of fatty acid metabolism disorders
Encyclopedia
Numerous genetic disorders are caused by errors in fatty acid
Fatty acid
In chemistry, especially biochemistry, a fatty acid is a carboxylic acid with a long unbranched aliphatic tail , which is either saturated or unsaturated. Most naturally occurring fatty acids have a chain of an even number of carbon atoms, from 4 to 28. Fatty acids are usually derived from...

 metabolism
Metabolism
Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...

. These disorders may be described as fatty oxidation disorders or as a lipid storage disorder
Lipid storage disorder
Lipid storage disorders are a group of inherited metabolic disorders in which harmful amounts of lipids accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do...

s
, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acid
Fatty acid
In chemistry, especially biochemistry, a fatty acid is a carboxylic acid with a long unbranched aliphatic tail , which is either saturated or unsaturated. Most naturally occurring fatty acids have a chain of an even number of carbon atoms, from 4 to 28. Fatty acids are usually derived from...

s in order to produce energy within muscles, liver, and other cell
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....

 types.

Some of the more common fatty acid metabolism disorders are:

Coenzyme A dehydrogenase deficiencies

  • Very long-chain acyl-coenzyme A dehydrogenase deficiency
    Very long-chain acyl-coenzyme A dehydrogenase deficiency
    Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food....

     (VLCAD) - Very long-chain acyl-coenzyme A dehydrogenase
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy...

     (LCHAD) - Long-chain 3-hydroxyacyl-coenzyme A
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency
    Medium-chain acyl-coenzyme A dehydrogenase deficiency
    Medium-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder associated with inborn errors of metabolism. It is due to defects in the enzyme complex known as medium-chain acyl dehydrogenase and reduced activity of this complex...

     (MCAD) - Medium-chain acyl-coenzyme A dehydrogenase
  • Short-chain acyl-coenzyme A dehydrogenase deficiency
    Short-chain acyl-coenzyme A dehydrogenase deficiency
    Short-chain acyl-coenzyme A dehydrogenase deficiency , also called ACADS deficiency and SCAD deficiency, is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.-Characteristics:Some affected infants...

     (SCAD) - Short-chain acyl-coenzyme A dehydrogenase
  • 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during fasting. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to metabolize fats and convert them...

     (HADH) - 3-hydroxyacyl-coenzyme A dehydrogenase

Other Coenzyme A enzyme deficiencies

  • 2,4 Dienoyl-CoA reductase deficiency
    2,4 Dienoyl-CoA reductase deficiency
    2,4 Dienoyl-CoA reductase deficiency is a fatty acid metabolism disorder.It occurs on as a result of a mutation on Chromosome 8.-External links:* *...

     - 2,4 Dienoyl-CoA reductase
    2,4 Dienoyl-CoA reductase
    2,4 Dienoyl-CoA reductase also known as DECR1 is a protein which in humans is encoded by the DECR1 gene which resides on chromosome 8....

  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or Hydroxymethylglutaric aciduria, is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine...

     - 3-hydroxy-3-methylglutaryl-CoA lyase
    3-hydroxy-3-methylglutaryl-CoA lyase
    3-hydroxy-3-methylglutaryl-CoA lyase plays an essential role in breaking down dietary proteins and fats for energy.Specifically, the enzyme is required for ketogenesis in the liver, and is also responsible for processing the amino acid leucine.-Pathology:Mutations in the HMGCL gene cause...

  • Malonyl-CoA decarboxylase deficiency
    Malonyl-CoA decarboxylase deficiency
    Malonyl-CoA decarboxylase deficiency , or Malonic aciduria is an autosomal recessive metabolic disorder caused by a genetic mutation which disrupts the activity of Malonyl-Coa decarboxylase...

     - Malonyl-CoA decarboxylase
    Malonyl-CoA decarboxylase
    Malonyl-CoA decarboxylase is an enzyme associated with Malonyl-CoA decarboxylase deficiency.It catalyzes the conversion of malonyl-CoA into acetyl-CoA and carbon dioxide.To some degree, it reverses the action of Acetyl-CoA carboxylase....


Carnitine related

  • Primary carnitine deficiency
    Primary carnitine deficiency
    Systemic primary carnitine deficiency , also called deficiency of plasma-membrane carnitine transporter, carnitine transporter deficiency or carnitine uptake defect , is an autosomal recessive metabolic disorder that prevents the body from using fats for energy, particularly during periods without...

     - SLC22A5
    SLC22A5
    SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.-External links:*...

     (carnitine transporter)
  • Carnitine-acylcarnitine translocase deficiency
    Carnitine-acylcarnitine translocase deficiency
    Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to...

     - Carnitine-acylcarnitine translocase
    Carnitine-acylcarnitine translocase
    Carnitine-acylcarnitine translocases are responsible for transporting both carnitine and carnitine-fatty acid complexes into and out of the mitochondria, across the inner mitochondrial membrane.-Function:...

  • Carnitine palmitoyltransferase I deficiency
    Carnitine palmitoyltransferase I deficiency
    Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food....

     (CPT) - Carnitine palmitoyltransferase I
    Carnitine palmitoyltransferase I
    Carnitine palmitoyltransferase I also known as carnitine acyltransferase I or CAT1 is a mitochondrial enzyme. It is part of a family of enzymes called carnitine acyltransferases. Three isoforms of CPT1 are currently known: CPT1A, CPT1B, and CPT1C...

  • Carnitine palmitoyltransferase II deficiency
    Carnitine palmitoyltransferase II deficiency
    Carnitine palmitoyltransferase II deficiency is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source....

     (CPT) - Carnitine palmitoyltransferase II
    Carnitine palmitoyltransferase II
    Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.-Further reading:...


Lipid storage

  • Acid lipase disease
    Acid lipase disease
    Acid lipase disease is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells...

    s
    • Wolman disease
      Wolman disease
      Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...

    • Cholesteryl ester storage disease
      Cholesteryl ester storage disease
      Cholesteryl Ester Storage Disease is the late onset phenotype for Lysosomal Acid Lipase Deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until...

  • Gaucher disease
  • Niemann-Pick disease
    Niemann-Pick disease
    Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...

  • Fabry disease
  • Farber’s disease
  • Gangliosidoses
  • Krabbé disease
    Krabbe disease
    Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...

  • Metachromatic leukodystrophy
    Metachromatic leukodystrophy
    Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...


Other

  • Mitochondrial trifunctional protein deficiency
    Mitochondrial trifunctional protein deficiency
    Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food...

  • Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
  • Tangier disease
    Tangier disease
    Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein , often referred to as "good cholesterol," in the bloodstream.-Diagnosis:...

  • Acute fatty liver of pregnancy
    Acute fatty liver of pregnancy
    Acute fatty liver of pregnancy is a rare life-threatening complication of pregnancy that occurs in the third trimester or the immediate period after delivery. It is thought to be caused by a disordered metabolism of fatty acids by mitochondria in the mother, caused by deficiency in the LCHAD enzyme...


See also

  • Fatty acid synthase
    Fatty acid synthase
    Fatty acid synthase is an enzyme that in humans is encoded by the FASN gene.Fatty acid synthase is a multi-enzyme protein that catalyzes fatty acid synthesis...

  • Essential fatty acid
    Essential fatty acid
    Essential fatty acids, or EFAs, are fatty acids that humans and other animals must ingest because the body requires them for good health but cannot synthesize them...

  • Fatty acid metabolism
    Fatty acid metabolism
    Fatty acids are an important source of energy and adenosine triphosphate for many cellular organisms. Excess fatty acids, glucose, and other nutrients can be stored efficiently as fat. Triglycerides yield more than twice as much energy for the same mass as do carbohydrates or proteins. All cell...

  • Orthomolecular medicine
    Orthomolecular medicine
    Orthomolecular medicine is a form of complementary and alternative medicine that seeks to maintain health and prevent or treat diseases by optimizing nutritional intake and/or prescribing supplements...

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