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Inborn Errors Lipid Metabolism
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Also Known As:
Lipid Metabolism, Inborn Errors; Lipid Metabolism, Inborn Error
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Disease Context: Research Results
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Errors Lipid Metabolism
Hyperlipoproteinemia Type II: 4283
Lipidoses: 669
Hyperlipoproteinemia Type III: 539
Smith-Lemli-Opitz Syndrome: 482
Cerebrotendinous Xanthomatosis: 456
VLCAD deficiency: 421
Medium chain acyl CoA dehydrogenase deficiency: 410
Familial Combined Hyperlipidemia: 374
Hyperlipoproteinemia Type I: 368
Sitosterolemia: 285
Congenital Generalized Lipodystrophy: 255
Barth Syndrome: 253
Hyperlipoproteinemia Type IV: 240
Cholesteryl Ester Transfer Protein Deficiency: 206
Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Short chain Acyl CoA dehydrogenase deficiency: 115
Myopathy with Abnormal Lipid Metabolism: 103
Hyperlipoproteinemia Type V: 101
Chanarin-Dorfman Syndrome: 95
Desmosterolosis: 40
Carnitine-Acylcarnitine Translocase Deficiency: 38
Neutral Lipid Storage Disease with Myopathy: 30
Hypolipoproteinemias: 24
Carnitine palmitoyl transferase 1A deficiency: 19
Long-chain acyl-CoA dehydrogenase deficiency: 14
Alpha-Methylacyl-CoA Racemase Deficiency: 11
Peroxisomal ACYL-COA oxidase deficiency: 8
Cytosolic acetoacetyl-CoA thiolase deficiency: 2
Acetyl-Coa Carboxylase Deficiency: 1
Congenital Lp(A) Deficiency: 1
Lipase deficiency combined: 1
2,4-Dienoyl-CoA Reductase Deficiency
Deficiency or Defect of Apolipoprotein E
Infantile Carnitine Palmitoyltransferase II Deficiency
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Type I Triglyceride Storage Disease
Type II Triglyceride Storage Disease
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Inborn Errors Metabolism: 1162
Inborn Errors Lipid Metabolism
Hyperlipoproteinemia Type II: 4283
Lipidoses: 669
Hyperlipoproteinemia Type III: 539
Smith-Lemli-Opitz Syndrome: 482
Cerebrotendinous Xanthomatosis: 456
VLCAD deficiency: 421
Medium chain acyl CoA dehydrogenase deficiency: 410
Familial Combined Hyperlipidemia: 374
Hyperlipoproteinemia Type I: 368
Sitosterolemia: 285
Congenital Generalized Lipodystrophy: 255
Barth Syndrome: 253
Hyperlipoproteinemia Type IV: 240
Cholesteryl Ester Transfer Protein Deficiency: 206
Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Short chain Acyl CoA dehydrogenase deficiency: 115
Myopathy with Abnormal Lipid Metabolism: 103
Hyperlipoproteinemia Type V: 101
Chanarin-Dorfman Syndrome: 95
Desmosterolosis: 40
Carnitine-Acylcarnitine Translocase Deficiency: 38
Neutral Lipid Storage Disease with Myopathy: 30
Hypolipoproteinemias: 24
Carnitine palmitoyl transferase 1A deficiency: 19
Long-chain acyl-CoA dehydrogenase deficiency: 14
Alpha-Methylacyl-CoA Racemase Deficiency: 11
Peroxisomal ACYL-COA oxidase deficiency: 8
Cytosolic acetoacetyl-CoA thiolase deficiency: 2
Acetyl-Coa Carboxylase Deficiency: 1
Congenital Lp(A) Deficiency: 1
Lipase deficiency combined: 1
2,4-Dienoyl-CoA Reductase Deficiency
Deficiency or Defect of Apolipoprotein E
Infantile Carnitine Palmitoyltransferase II Deficiency
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Type I Triglyceride Storage Disease
Type II Triglyceride Storage Disease
Lipid Metabolism Disorders: 898
Inborn Errors Lipid Metabolism
Hyperlipoproteinemia Type II: 4283
Lipidoses: 669
Hyperlipoproteinemia Type III: 539
Smith-Lemli-Opitz Syndrome: 482
Cerebrotendinous Xanthomatosis: 456
VLCAD deficiency: 421
Medium chain acyl CoA dehydrogenase deficiency: 410
Familial Combined Hyperlipidemia: 374
Hyperlipoproteinemia Type I: 368
Sitosterolemia: 285
Congenital Generalized Lipodystrophy: 255
Barth Syndrome: 253
Hyperlipoproteinemia Type IV: 240
Cholesteryl Ester Transfer Protein Deficiency: 206
Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Familial Partial Lipodystrophy: 176
Shwachman-Diamond Syndrome: 149
Short chain Acyl CoA dehydrogenase deficiency: 115
Myopathy with Abnormal Lipid Metabolism: 103
Hyperlipoproteinemia Type V: 101
Chanarin-Dorfman Syndrome: 95
Desmosterolosis: 40
Carnitine-Acylcarnitine Translocase Deficiency: 38
Neutral Lipid Storage Disease with Myopathy: 30
Hypolipoproteinemias: 24
Carnitine palmitoyl transferase 1A deficiency: 19
Long-chain acyl-CoA dehydrogenase deficiency: 14
Alpha-Methylacyl-CoA Racemase Deficiency: 11
Peroxisomal ACYL-COA oxidase deficiency: 8
Apolipoprotein B Familial Hypobetalipoproteinemia: 7
Cytosolic acetoacetyl-CoA thiolase deficiency: 2
Acetyl-Coa Carboxylase Deficiency: 1
Congenital Lp(A) Deficiency: 1
Lipase deficiency combined: 1
2,4-Dienoyl-CoA Reductase Deficiency
Deficiency or Defect of Apolipoprotein E
Infantile Carnitine Palmitoyltransferase II Deficiency
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Type I Triglyceride Storage Disease
Type II Triglyceride Storage Disease