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Lysosomal Storage Disease
Lysosomal storage disease
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Inborn errors of metabolism
(106)
Aspartylgl- ucosaminuria
Cholesteryl ester storage disease
Fucosidosis
Glycogen storage disease
Krabbe disease
Krabbe disease
Lipid storage disease
Lipid storage disorders
Mucopolysa- ccharidosis type VII
Pompe disease
Schindler disease
Storage 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
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
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease type I
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 diseases
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
N-Acetylglutamate synthase 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
Refsum's disease
Rotor syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
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
Very long-chain acyl-coenzyme A dehydrogenase deficiency
X-linked ichthyosis
Zellweger syndrome
more...
Lysosomal storage diseases
(39)
Alpha-mannosidosis
Batten disease
Fabry disease
Farber disease
GM1 gangliosidoses
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycoproteinosis
I-cell disease
Metachromatic leukodystrophy
Morquio
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis i
Multiple sulfatase deficiency
Niemann Pick disease
Pseudo-Hurler polydystrophy
Salla disease
Sialidosis
Tay Sachs disease
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Hunter syndrome
Krabbe disease
Lipid storage disease
Mucopolysa- ccharidosis type VII
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pompe disease
Pycnodysostosis
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Wolman disease
more...
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
Gangliosidosis
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...
Pediatrics
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
Inborn errors of metabolism
Storage disease
Hepatology
Hepatosplenomegaly
Hepatomegaly
Pompe disease
Gaucher disease
Glycogen storage disease
Cholesteryl ester storage disease
Mucopolysa- ccharidosis i
Lipid storage disorders
(14)
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Gangliosidosis
Gaucher disease
Krabbe disease
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
more...
Skin conditions resulting from errors in metabolism
(86)
Adrenoleuk- odystrophy
Cerebrotendineous xanthomatosis
Acute intermittent porphyria
Alkaptonuria
Amyloid purpura
Amyloid purpura
Amyloidosis
Apolipoprotein B deficiency
B-mannosidase deficiency
CADASIL syndrome
Calcinosis cutis
Carotenosis
Citrullinemia
Combined hyperlipidemia
Diabetic bulla
Diabetic cheiroarthropathy
Diabetic dermopathy
Dystrophic calcinosis cutis
Eruptive xanthoma
Erythropoietic porphyria
Erythropoietic protoporphyria
Fabry disease
Familial apoprotein CII deficiency
Familial dysbetalip- oproteinemia
Familial hypertrigl- yceridemia
Farber disease
Fucosidosis
Gaucher disease
Gout
Gunther disease
Hartnup disease
Hepatoeryt- hropoietic porphyria
Hereditary coproporphyria
Heredofamilial amyloidosis
Hunter syndrome
Hyaluronidase deficiency
Iatrogenic calcinosis cutis
Idiopathic scrotal calcinosis
Lafora disease
Lesch–Nyhan syndrome
Lichen amyloidosis
Limited joint mobility
Lipoprotein lipase deficiency
Macular amyloidosis
Medication-induced hyperlipop- roteinemia
Metastatic calcinosis cutis
Morquio
Mucopolysa- ccharidosis i
Myxedema
Necrobiosis lipoidica
Niemann Pick disease
Nodular amyloidosis
Nodular xanthoma
Normolipop- roteinemic xanthomatosis
Ochronosis
Osteoma cutis
Palmar xanthoma
Phenylketonuria
Porphyria
Porphyria cutanea tarda
Primary cutaneous amyloidosis
Primary systemic amyloidosis
Prolidase deficiency
Pseudoporphyria
Secondary cutaneous amyloidosis
Secondary systemic amyloidosis
Sialidosis
Sitosterolemia
Subepidermal calcified nodule
Tangier disease
Transient erythroporphyria of infancy
Traumatic calcinosis cutis
Tuberoeruptive xanthoma
Tumoral calcinosis
Urbach–Wiethe disease
Variegate porphyria
Verruciform xanthoma
Waxy skin
Xanthelasma
Xanthoma
Xanthoma diabeticorum
Xanthoma planum
Xanthoma striatum palmare
Xanthoma tendinosum
Xanthoma tuberosum
Xanthomatosis
Xanthomatous biliary cirrhosis
more...
Lipids
Glycolipid
Sphingolipids
Ganglioside
GM1
Glucocerebroside
Neurological disorders
Hereditary sensory and autonomic neuropathies
Olfaction disorders
Batten disease
Wolman disease
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Krabbe disease
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger syndrome
EC 3.2.1
Beta galactosidase
Glucocerebrosidase
Alpha-L-fucosidase
Acid maltase
Neuraminidase
Autosomal recessive disorders
(249)
Infantile free sialic acid storage disease
Tay-sachs disease, ab variant
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-Methylcr- otonyl-CoA carboxylase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Biotinidase deficiency
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile neuroaxonal dystrophy
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disease
Lipoid congenital adrenal hyperplasia
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Mitochondrial trifunctional protein deficiency
Morquio
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis i
Mucopolysa- ccharidosis type VII
Multiple sulfatase deficiency
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann Pick disease
Niemann-Pick disease, type C
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Phosphofructokinase deficiency
Pompe disease
Primary carnitine deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Propionic acidemia
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
more...
Medical condition
(45)
Sea-blue histiocyte syndrome
Jansky-bielschowsky disease
Sphingolipidosis
Histiocytosis non-langerhans-cell
Glossopharyngeal nerve diseases
Glossopharyngeal nerve diseases
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Cherry red spot myoclonus syndrome
Physiologic nystagmus
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Pompe disease
Gaucher disease
Fabry disease
Mucopolysa- ccharidosis
Glycogen storage disease
Batten disease
Krabbe disease
Tay Sachs disease
Storage disease
Fucosidosis
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
Mucolipidosis
Sialidosis
Beta-mannosidosis
Schindler disease
Aspartylgl- ucosaminuria
Salla disease
Mucopolysa- ccharidosis i
Wolman disease
Mucopolysa- ccharidosis type VII
Mucolipidosis type IV
Morquio
Farber disease
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Metachromatic leukodystrophy
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Olfaction disorders
Splenomegaly
more...
See also
(20)
Diseases and disorders
Lysosome
Genetic disorders
Enzyme replacement therapy
Enzyme
Enzyme
Enzymes
Galactosidase
Niemann-Pick disease, SMPD1-associated
Autosomal recessive
Ashkenazi Jewish
Glycosaminoglycans
Mucopolysaccharide
Cerezyme
Miglustat
Hydrolases
Beta-mannosidosis
Myozyme
Missense mutations
Mutation
Pharmacological chaperone
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