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Lipid Storage Disease
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Lipid storage disease
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Inborn errors of metabolism
(106)
Cholesteryl ester storage disease
Glycogen storage disease
Glycogen storage disease type iib
Heredopathia atactica polyneuritiformis
Krabbe disease
Krabbe disease
Lipid storage disorders
Lysosomal storage diseases
N-acetylglutamate synthase deficiency
SCAD deficiency
Schindler disease
Storage disease
VLCAD deficiency
Von Gierke's disease
Wolman disease
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase 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 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 lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Rotor syndrome
Sarcosinemia
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(19)
Niemann Pick disease
Gaucher disease
Tay Sachs disease
Cerebrotendineous xanthomatosis
Batten disease
Batten disease
Tay-sachs disease, ab variant
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Farber disease
Mucopolysa- ccharidosis
Neuronal ceroid lipofuscinosis
Glycogen storage disease type iib
Krabbe disease
Wolman disease
SCAD deficiency
Von Gierke's disease
N-acetylglutamate synthase deficiency
VLCAD deficiency
more...
Rare diseases
(17)
Fabry disease
GM1 gangliosidoses
GM2 gangliosidoses
Niemann Pick disease
Gaucher disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Cholesteryl ester storage disease
Tay-sachs disease, ab variant
Krabbe disease
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
Farber disease
Schindler disease
Neuronal ceroid lipofuscinosis
more...
Diseases and disorders
(17)
MASA syndrome
Histiocytosis
Lupus erythematosus, cutaneous
X-linked sideroblastic anemia
Niemann Pick disease
Niemann Pick disease
Tay Sachs disease
Cerebrotendineous xanthomatosis
Fabry disease
GM1 gangliosidoses
Krabbe disease
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
GM2 gangliosidoses
Farber disease
Neuronal ceroid lipofuscinosis
more...
Lysosomal storage diseases
(39)
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 disease
Glycogen storage disease type iib
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Genetic disorders
(33)
Adrenoleuk- odystrophy
Niemann-Pick disease, SMPD1-associated
Alport syndrome
Leukodystrophies
Androgen insensitivity syndrome
Androgen insensitivity syndrome
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
McLeod syndrome
Niemann Pick disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Cerebrotendineous xanthomatosis
Fabry disease
Cholesteryl ester storage disease
GM1 gangliosidoses
Batten disease
Tay-sachs disease, ab variant
MASA syndrome
Krabbe disease
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
SCAD deficiency
GM2 gangliosidoses
Farber disease
Mucopolysa- ccharidosis
Von Gierke's disease
Schindler disease
N-acetylglutamate synthase deficiency
VLCAD deficiency
X-linked sideroblastic anemia
more...
Genodermatoses
Neutral lipid storage disease
Ichthyosis
Erythrokeratodermia variabilis
Multiple sulfatase deficiency
Heredopathia atactica polyneuritiformis
Metabolic disorders
(59)
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 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
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
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
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Lipids
(68)
Ceramide
Gangliosides
Glycolipid
Lipid
Lipid a
Lipid a
Lipid disorders
Lipoproteins
Phospholipids
Sphingolipids
2-Arachidonyl glyceryl ether
Acid value
Adipocere
Biolipid
CDw17 antigen
Caldarchaeol
Cerebroside
Diglyceride
Dihomo-gam- ma-linolenic acid
Docosanoids
Eicosanoids
Ethylhexyl palmitate
Fatty acids
Fatty alcohol
GM1
Galactocerebroside
Globoside
Glucocerebroside
Glyceride
Glycerolysis
Glyceryl laurate
Glycosphingolipid
Interesterified fat
Intralipid
Isopropyl palmitate
Lactosylceramide
Lipid polymorphism
Lipid raft
Lipid rescue
Lipidome
Lipidomics
Lipoprotein
Lipoprotein-X
Lysochrome
Lysophosph- atidylcholine
Membrane fluidity
Membrane lipids
Monoglyceride
Monounsaturated fat
N-Acylethanolamine
Oleamide
Oleochemical
Omega-3 fatty acid
Oxylipin
Palmitoylcarnitine
Polyunsaturated fat
Resolvins
Saponifiable lipid
Saturated fat
Simple lipid
Spherosome
Sphingosine kinase
Sphingosin- e-1-phosphate
Steroids
Sulfolipid
Sulfoquinovosyl diacylglycerol
Trans fat
Triglycerides
Unsaturated fat
more...
Membrane biology
Sphingomyelin
Biological membranes
Lipid bilayer
Glyceropho- spholipids
Phospholipids
Neurological disorders
(8)
Leukodystrophy
Luschka-Magendie foramina atresia
Olfaction disorders
Batten disease
Leukodystrophies
Leukodystrophies
Wolman disease
Hereditary sensory and autonomic neuropathies
Neuronal ceroid lipofuscinosis
more...
EC numbers (EC 3)
Lipoprotein lipase
Glucocerebrosidase
Beta-hexosaminidase B
Human pancreatic lipase
Medical condition
(52)
Lipid storage myopathy
Jansky-bielschowsky disease
Sphingolipidosis
Histiocytosis non-langerhans-cell
Glossopharyngeal nerve diseases
Glossopharyngeal nerve diseases
Phytanic acid storage disease
Myopathy
Type i complex regional pain syndrome
Enterocolitis, pseudomembranous
Physiologic nystagmus
Lancereaux- -Mathieu-Weil Spirochetosis
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Netherton syndrome ichthyosis
Intervertebral disk displacement
Ichthyosis hystrix curth macklin type
Rosenthal syndrome
Neutral lipid storage disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Cerebrotendineous xanthomatosis
Fabry disease
Cholesteryl ester storage disease
Glycogen storage disease
Batten disease
Ichthyosis
Storage disease
Alport syndrome
Krabbe disease
Sandhoff disease
Sea-blue histiocyte syndrome
Androgen insensitivity syndrome
Wolman disease
Histiocytosis
Erythroderma
Lysosomal storage diseases
Heredopathia atactica polyneuritiformis
Farber disease
Leukodystrophy
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Mucopolysa- ccharidosis
Splenomegaly
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Olfaction disorders
Schindler disease
Neuronal ceroid lipofuscinosis
X-linked sideroblastic anemia
more...
See also
(20)
Enzyme replacement therapy
Hepatosplenomegaly
Hyper IgM Syndrome Type 1
Abnormal vaginal bleeding
X-linked recessive
X-linked recessive
Sea-blue histiocyte syndrome
Lysosomal
X linked
Erythroderma
Autosomal recessive
Miglustat
Acid lipase
Purpura, schoenlein-henoch
Cornification
Chylomicrons
Enlarged liver
Enzyme
Ludwig Pick
PNPLA2
Fetofetal transfusion
more...
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