Inborn Error Of Lipid Metabolism

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Retrieved

2021-01-18

Source

Wikipedia

Trials

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Genes

APOA1, HADHB, LDLR, PPARA, APOB, PCSK9, LPL, APOE, LPA, SERPINF1, PPARG, CPT2, ADIPOQ, SIRT1, MIR122, MIR33A, HMGCR, TNF, SREBF1, REN, LDLRAP1, PON1, LPAL2, PAQR3, IL6, ABCA1, ACE, APOC3, APOA2, AZGP1, CHDH, SOCS7, PDCD4, ARNTL, PPARGC1A, HDAC1, BMS1, ABCG1, CAT, NR1I2, BECN1, FOSL1, TFEB, NR1I3, PRM3, PNPLA2, CRABP2, DGAT2, NLRP3, APOA5, ZBTB7C, ALB, LINC01194, ACOX1, MIR144, MIR200A, MIR206, MIR22, ACAT1, OPN1MW2, NR1H2, SREBF2, MSTN, MTTP, HNF4A, HSP90AB1, IARS1, OPN1MW, IL6R, LCAT, FOXO1, LEP, LIPA, LIPC, FCGR2B, EZH2, MPO, MT1B, PC, CTH, CYB5R3, PIK3R1, ACACA, CYP51A1, PRKCZ, RARRES2, CYP1B1, RXRG, SORT1, S100A7, SLC2A1, SLC2A4, SMPD1, SOAT1, OPN1MW3

Drugs

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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:

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