Inborn error of lipid metabolism

Several fatty acid molecules

Numerous genetic disorders are caused by errors in fatty acid metabolism. 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 that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.

Some of the more common fatty acid metabolism disorders are:

## Contents

* 1 Coenzyme A dehydrogenase deficiencies
* 2 Other Coenzyme A enzyme deficiencies
* 3 Carnitine related
* 4 Lipid storage
* 5 Other
* 6 See also
* 7 References
* 8 External links

## Coenzyme A dehydrogenase deficiencies

* Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD) - Very long-chain acyl-coenzyme A dehydrogenase
* Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD) - Long-chain 3-hydroxyacyl-coenzyme A
* Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) - Medium-chain acyl-coenzyme A dehydrogenase
* Short-chain acyl-coenzyme A dehydrogenase deficiency (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
* Malonyl-CoA decarboxylase deficiency \- Malonyl-CoA decarboxylase

## Carnitine related

* Primary carnitine deficiency - SLC22A5 (carnitine transporter)
* Carnitine-acylcarnitine translocase deficiency \- Carnitine-acylcarnitine translocase
* Carnitine palmitoyltransferase I deficiency (CPT) - Carnitine palmitoyltransferase I
* Carnitine palmitoyltransferase II deficiency (CPT) - Carnitine palmitoyltransferase II

## Lipid storage

* Acid lipase diseases
* Wolman disease
* Cholesteryl ester storage disease
* Gaucher disease
* Niemann-Pick disease
* Fabry disease
* Farber’s disease
* Gangliosidoses
* Krabbé disease
* Metachromatic leukodystrophy

## Other

* Spinal muscular atrophy[1][2]
* Mitochondrial trifunctional protein deficiency
* Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
* Tangier disease
* Acute fatty liver of pregnancy

## See also

* Fatty acid synthase
* Essential fatty acid
* Fatty acid metabolism
* Orthomolecular medicine

## References

1. ↑ Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric Neurology 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356.
2. ↑ Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in childhood spinal muscular atrophy". Annals of Neurology 45 (3): 337–343. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U. PMID 10072048.

## External links

Classification|

* ICD-10: E75, E78
* ICD-9-CM: 272, 277.85
* MeSH: D008052

|

* v
* t
* e

Lysosomal storage diseases: Inborn errors of lipid metabolism]] (Lipid storage disorders)

Sphingolipidoses
(to ceramide)|

| From ganglioside
(gangliosidoses)|

* Ganglioside: GM1 gangliosidoses
* GM2 gangliosidoses (Sandhoff disease
* Tay–Sachs disease
* AB variant)

|

From globoside|

* Globotriaosylceramide: Fabry's disease

From sphingomyelin|

* Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
* type C)
* Glucocerebroside: Gaucher's disease

From sulfatide
(sulfatidoses

* leukodystrophy)

* Sulfatide: Metachromatic leukodystrophy
* Multiple sulfatase deficiency
* Galactocerebroside: Krabbe disease

To sphingosine|

* Ceramide: Farber disease

NCL|

* Infantile
* Jansky–Bielschowsky disease
* Batten disease

Other|

* Cerebrotendineous xanthomatosis
* Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
* Sea-blue histiocytosis

* v
* t
* e

Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)

Synthesis|

* Biotinidase deficiency (BTD)

Degradation|

| Acyl
transport|

* Carnitine
* CPT1
* CPT2
* CDSP
* CACTD
* Adrenoleukodystrophy (ALD)

|

Beta
oxidation|

| General|

* Acyl CoA dehydrogenase
* Short-chain SCADD
* Medium-chain MCADD
* Long-chain 3-hydroxy LCHAD
* Very long-chain VLCADD

* Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy]]

|

Unsaturated|

* 2,4 Dienoyl-CoA reductase deficiency (DECRD)

Odd chain|

* Propionic acidemia (PCC deficiency)

Other|

* 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD)
* Glutaric acidemia type 2 (MADD)

acetyl-CoA|

* Malonic aciduria (MCD)

Aldehyde|

* Sjögren–Larsson syndrome (SLS)

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