Numerous

genetic disorders A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are ...

are caused by errors in

fatty acid In chemistry, in particular in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated and unsaturated compounds#Organic chemistry, saturated or unsaturated. Most naturally occurring fatty acids have an ...

metabolism Metabolism (, from ''metabolē'', "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cellular processes; the co ...

. These disorders may be described as fatty oxidation disorders or as a '' lipid storage disorders'', and are any one of several

inborn errors of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substr ...

that result from enzyme defects affecting the ability of the body to

oxidize Redox ( , , reduction–oxidation or oxidation–reduction) is a type of chemical reaction in which the oxidation states of the reactants change. Oxidation is the loss of electrons or an increase in the oxidation state, while reduction is ...

s in order to produce energy within muscles, liver, and other

cell Cell most often refers to: * Cell (biology), the functional basic unit of life * Cellphone, a phone connected to a cellular network * Clandestine cell, a penetration-resistant form of a secret or outlawed organization * Electrochemical cell, a de ...

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 is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. Those affected by this disorder have inadequ ...

(VLCAD) - Very long-chain acyl-coenzyme A dehydrogenase *

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy. This can become life-threatening, particularly during peri ...

(LCHAD) - Long-chain 3-hydroxyacyl-coenzyme A *

Medium-chain acyl-coenzyme A dehydrogenase deficiency 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 ...

(MCAD) - Medium-chain acyl-coenzyme A dehydrogenase *

Short-chain acyl-coenzyme A dehydrogenase deficiency Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosome, autosomal dominance (genetics), recessive List of fatty acid metabolism disorders, fatty acid oxidation disorder which affects enzymes required to break down a certain gro ...

(SCAD) - Short-chain acyl-coenzyme A dehydrogenase * 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH) - 3-hydroxyacyl-coenzyme A dehydrogenase

Other Coenzyme A enzyme deficiencies

* 2,4 Dienoyl-CoA reductase deficiency - 2,4 Dienoyl-CoA reductase *

3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, (HMGCLD) also known as HMGCL deficiency, HMG-CoA lyase deficiency, or hydroxymethylglutaric aciduria, is an uncommon autosomal recessive inborn error in ketone body production and leucine breakdown ...

- 3-hydroxy-3-methylglutaryl-CoA lyase *

Malonyl-CoA decarboxylase deficiency Malonyl-CoA is a coenzyme A derivative of malonic acid. Biosynthesis Malonyl-CoA cannot cross Biological membrane, membranes and there is no known malonyl-CoA import mechanism. The biosynthesis therefore takes place locally: * cytosol: Malonyl- ...

Malonyl-CoA decarboxylase Malonyl-CoA decarboxylase (), (which can also be called MCD and malonyl-CoA carboxyl-lyase) is found in bacteria and humans and has important roles in regulating fatty acid metabolism and food intake, and it is an attractive target for drug discove ...

Carnitine related

Primary carnitine deficiency Systemic primary carnitine deficiency (SPCD)Systemic primary carn ...

SLC22A5 SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along ...

(carnitine transporter) *

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 a ...

Carnitine-acylcarnitine translocase Carnitine-acylcarnitine translocase (CACT) is responsible for passive transport of carnitine and carnitine-fatty acid complexes and across the inner mitochondrial membrane as part of the carnitine shuttle system. Function Fatty acyl–carniti ...

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(LCFA) into energy, particularly during periods without food. It is caused by a mutation in C ...

(CPT) -

Carnitine palmitoyltransferase I Carnitine palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial enzyme responsible for the formation of acyl carnitines by ca ...

Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported ...

(CPT) -

Carnitine palmitoyltransferase II Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the ''CPT2'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nu ...

Lipid storage

* Acid lipase diseases **

Wolman disease Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an import ...

Cholesteryl ester storage disease Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an import ...

Gaucher disease Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low b ...

* Niemann-Pick disease *

Fabry disease Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. Fabry disease is one of a group of conditions known as lysosomal storage dis ...

* Farber's disease * Gangliosidoses *

Krabbé disease Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism o ...

Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the gro ...

Other

Spinal muscular atrophy Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common geneti ...

Mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disordersubscription needed that prevents the body from converting certain fats to energy, particularly during periods without f ...

* Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD) *

Tangier disease Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. Worldwide, ...

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 ...

References

External links

{{Fatty-acid metabolism disorders Fatty acids

Fatty Fatty is a derogatory term for someone who is obese. It may refer also to: People Nickname * Roscoe Arbuckle (1887–1933), American actor and comedian * Fatty Briody (1858–1903), American Major League Baseball player * Bob Fothergill (1897 ...