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Inborn Error of Lipid Metabolism
Inborn error of lipid metabolism
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Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
Carnitine deficiency
Cholesteryl ester storage disease
GSD type I
Lecithin cholesterol acyltransferase deficiency
Lecithin cholesterol acyltransferase deficiency
Lipid storage disorders
Lysosomal storage diseases
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Propionic acidemia
Smith-lemli-opitz syndrome
Tangier disease
Wolman disease
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lesch–Nyhan syndrome
Lipid storage disorder
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Succinic semialdehyde dehydrogenase deficiency
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
X-linked ichthyosis
Zellweger syndrome
more...
Fatty acids
Beta oxidation
Fatty acid metabolism
Autosomal recessive disorders
(20)
Lipoid proteinosis
Abetalipop- roteinemia
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Multiple sulfatase deficiency
Multiple sulfatase deficiency
Gangliosidoses
Acrodermatitis enteropathica
Batten disease
Sandhoff disease
Metachromatic leukodystrophy
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Lecithin cholesterol acyltransferase deficiency
GSD type I
Tangier disease
3 methylcrotonyl-coa carboxylase deficiency
Wolman disease
Carnitine deficiency
Smith-lemli-opitz syndrome
Propionic acidemia
more...
Rare diseases
(12)
Barraquer-Simons Syndrome
GM1 gangliosidoses
GM2 gangliosidoses
Malonic aciduria
Tay-sachs disease, ab variant
Tay-sachs disease, ab variant
Cholesteryl ester storage disease
Multiple sulfatase deficiency
Gangliosidoses
Wolman disease
Propionic acidemia
Sandhoff disease
Metachromatic leukodystrophy
more...
Genetic disorder
Hypoalphal- ipoproteinemia
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Skin conditions resulting from errors in metabolism
Apolipoprotein B deficiency
Adrenoleuk- odystrophy
Combined hyperlipidemia
Lipoid proteinosis
Cerebrotendineous xanthomatosis
Tangier disease
Conditions of the subcutaneous fat
Adiposis dolorosa
Lipodystrophy
Barraquer-Simons Syndrome
Metabolic disorders
(60)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
Lipoid proteinosis
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Lipids
Lipoprotein
Glycolipid
Sphingolipids
Lipid
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Lipid disorders
(15)
Familial hyperchole- sterolemia
Hypertrigl- yceridemia
Blood lipids
Cholesterol
Cholesterol Depletion
Cholesterol Depletion
Combined hyperlipidemia
High-density lipoprotein
Hyperchole- sterolemia
Hyperlipidemia
Hypocholesterolemia
Lipoprotein lipase deficiency
Lipoprotein(a)
Low-density lipoprotein
Mevalonate inhibition
Triglyceride
more...
Metabolic pathways
(29)
Glycolysis
Glyoxylate cycle
Non-mevalonate pathway
The citric acid cycle
Alanine cycle
Alanine cycle
Alpha oxidation
Alpha-aminoadipate pathway
Aminoshikimate pathway
Beta oxidation
Cori cycle
Entner–Doudoroff pathway
Gluconeogenesis
Glucose cycle
Glycogenesis
Glycogenolysis
Kynurenine pathway
Lactic acid fermentation
Mevalonate inhibition
Mevalonate pathway
Microsomal Ethanol Oxidizing System
Octadecanoid pathway
Pentose phosphate pathway
Polyol pathway
Reductive acetyl-CoA pathway
Reverse Krebs cycle
Steroid
Transsulfuration pathway
Urea Cycle
Urea cycle
more...
Metabolism
(8)
Metabolic network
Xenobiotics
Acetyl coa
Amino acid metabolism
Metabolic pathway
Metabolic pathway
Anabolism
Oxidative phosphorylation
Fatty acid metabolism
more...
Medicine
Diseases and disorders
Hypobetali- poproteinemia
Hypolipoproteinemia
J. Inherit. Metab. Dis.
Diseases and disorders
(25)
Sea-blue histiocyte syndrome
Porphyrias
Failure to thrive
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Lecithin cholesterol acyltransferase deficiency
Adiposis dolorosa
Abetalipop- roteinemia
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Jansky-bielschowsky disease
Hypolipoproteinemia
Cholesteryl ester storage disease
Multiple sulfatase deficiency
Gangliosidoses
GM2 gangliosidoses
Tangier disease
Wolman disease
Lysosomal storage diseases
Carnitine deficiency
Acrodermatitis enteropathica
Lipodystrophy
Batten disease
Sandhoff disease
Metachromatic leukodystrophy
more...
See also
(20)
Acyl CoA dehydrogenase
Biochemicals
Enzymes
Niemann-Pick disease, SMPD1-associated
Glycerate 3-phosphate
Glycerate 3-phosphate
Jansky-bielschowsky disease
Long chain
Isoprenoids
Carnitine
Autosomal recessive
Essential fatty acid
Fatty acid synthase
Orthomolecular medicine
Aminoacyl-tRNA
Coenzymes
Carbon fixation
Annu. Rev. Biochem.
X linked
Long-chain fatty acids
Acute pancreatitis
more...
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