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Metachromatic leukodystrophy
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Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Krabbe disease
Pelizaeus-- Merzbacher disease
Zellweger syndrome
Lysosomal storage diseases
(39)
Batten disease
Cholesteryl ester storage disease
Fabry disease
Farber disease
GM1 gangliosidoses
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Hurler-Scheie Syndrome
MPS I
Mucolipidosis II
Multiple sulfatase deficiency
Niemann Pick disease
Pompe disease
Sandhoff disease
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Cystinosis
Glycoproteinosis
Hunter syndrome
Krabbe disease
Lipid storage disorder
Lysosomal storage disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sanfilippo syndrome
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Autosomal recessive disorders
(20)
McArdles syndrome
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Infantile neuroaxonal dystrophy
Sarcosinemia
Sarcosinemia
Multiple sulfatase deficiency
Batten disease
Gaucher disease
Gangliosidoses
Sly syndrome
Farber disease
Krabbe disease
Niemann Pick disease
MPS I
Tay Sachs disease
Wolman disease
Canavan disease
Hurler-Scheie Syndrome
Sandhoff disease
Pompe disease
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Rare diseases
(22)
Multiple system atrophy
Menkes syndrome
Tay-sachs disease, ab variant
Multiple sulfatase deficiency
GM1 gangliosidoses
GM1 gangliosidoses
GM2 gangliosidoses
Gaucher disease
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Farber disease
Krabbe disease
Galactosialidosis
Niemann Pick disease
Alexander disease
Fabry disease
Tay Sachs disease
Wolman disease
Schindler disease
Sandhoff disease
Pompe disease
Sarcosinemia
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Genetic disorders
(38)
Niemann-Pick disease, SMPD1-associated
Spinocerebellar ataxia
Muenke syndrome
Luschka-Magendie foramina atresia
Muscular dystrophy - Duchenne type
Muscular dystrophy - Duchenne type
Myotonic dystrophy
Refractory anemia with ringed sideroblasts
Loken Senior syndrome
22q13
McArdles syndrome
Adrenoleuk- odystrophy
Tay-sachs disease, ab variant
Multiple sulfatase deficiency
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Batten disease
GM2 gangliosidoses
Gaucher disease
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Leukodystrophies
Farber disease
Krabbe disease
Galactosialidosis
Niemann Pick disease
Alexander disease
Fabry disease
Infantile neuroaxonal dystrophy
MPS I
Tay Sachs disease
Wolman disease
Schindler disease
Canavan disease
Hurler-Scheie Syndrome
Sandhoff disease
Pompe disease
Sarcosinemia
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Diseases and disorders
(64)
Leukodystrophy
Mesangiocapillary glomerulonephritis
Mammary dysplasia
Sulfatidosis
Malignant melanoma
Malignant melanoma
Jansky-bielschowsky disease
Sea-blue histiocyte syndrome
Acute biphenotypic leukemia
Reticular dysgenesis
Lymphohistiocytosis
Myelofibrosis
Progressive sclerosing poliodystrophy
Diffuse cerebral sclerosis
Sphingolipidoses
Neurological disorders
Hypotonia
Lancereaux- -Mathieu-Weil Spirochetosis
Demyelinating diseases
Melnick-needles syndrome
Phytanic acid storage disease
Multiple hamartoma syndrome
Moebius syndrome
Dysmyelination
Male turner syndrome
Myopathy myotubular
Infant botulism
Kernicterus
Marinesco sjogren syndrome
Leukemia
Leukemia, hairy cell
Morvan disease
Maroteaux-Lamy syndrome
Multiple sulfatase deficiency
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Batten disease
GM2 gangliosidoses
Gaucher disease
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Lysosomal storage diseases
Farber disease
Krabbe disease
Galactosialidosis
Niemann Pick disease
Muenke syndrome
Sialidosis
Alexander disease
Fabry disease
MPS I
Tay Sachs disease
Wolman disease
Muscular dystrophy - Duchenne type
Myotonic dystrophy
Schindler disease
Canavan disease
Refractory anemia with ringed sideroblasts
Hurler-Scheie Syndrome
Sandhoff disease
Pompe disease
Multiple system atrophy
Menkes syndrome
Sarcosinemia
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Inborn errors of metabolism
(107)
Lipid storage disorders
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylgl- utaryl-CoA lyase 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
Cholesteryl ester storage disease
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 I
Glycogen storage disease type III
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
McArdles syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes syndrome
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
Phytanic acid storage disease
Pompe disease
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
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
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Neurology
(9)
Myoclonic Encephalopathy of infants
Ramsay Hunt syndrome type I
Adrenoleuk- odystrophy
Niemann Pick disease
Neurological disorders
Neurological disorders
Tay Sachs disease
Demyelinating diseases
Myotonic dystrophy
Kernicterus
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Lipids
Sphingolipids
Cerebroside
Glycolipid
Galactocerebroside
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 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
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
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
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Symptoms
Irritability
Seizure
Speech difficulties
Swallowing difficulty
Learning disability
Decreased muscle tone
Hypotonia
Signs and tests
(9)
Abnormal eye movements
Coma
Lumbar puncture
Magnetic resonance imaging
Nerve biopsy
Nerve biopsy
Optic nerve atrophy
Urinalysis
Urine chemistry
Viśiṣṭādvaita
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See also
(20)
Maxillofacial injury
Major depression with psychotic features
Medial collateral ligament
Arylsulfatase A
Sulfatide
Sulfatide
Metachromatic
Lysosomal
Enzyme replacement therapy
Myelin sheath
Hirayama syndrome
Refractory anemia with excess blasts in transformation
Prosaposin
GM2A
Hematopoietic stem cell transplantation
Sulfatases
Enzyme
Genetic counseling
The Myelin Project
Www.ulf.org
The Stennis Foundation
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