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Metachromatic Leukodystrophy
Metachromatic leukodystrophy
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Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Krabbe disease
Pelizaeus-- Merzbacher disease
Zellweger syndrome
Lysosomal storage diseases
(39)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Cholesteryl ester storage disease
Farber disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Hunter syndrome
Hurler-Scheie Syndrome
Lysosomal storage disease
Mucolipidosis I
Mucolipidosis II
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Niemann Pick disease
Pompe disease
Pseudo-Hurler polydystrophy
Sandhoff disease
Sly syndrome
Tay Sachs disease
Wolman disease
Canavan disease
Cystinosis
Fabry disease
Glycoproteinosis
Krabbe disease
Lipid storage disorder
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pycnodysostosis
Salla disease
Sanfilippo syndrome
Schindler disease
more...
Autosomal recessive disorders
(248)
Acatalasia
Bare lymphocyte syndrome
Carbamoyl phosphate synthetase I deficiency
Cerebrotendineous xanthomatosis
Cystathioninuria
Cystathioninuria
Essential fructosuria
Familial dysautonomia
Fucosidosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Infantile neuroaxonal dystrophy
Lecithin cholesterol acyltransferase deficiency
McArdles syndrome
N-acetylglutamate synthase deficiency
Sarcosinemia
Tay-sachs disease, ab variant
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-Methylcr- otonyl-CoA carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
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
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
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
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
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
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fumarase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galloway Mowat syndrome
Gangliosidoses
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type III
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler-Scheie Syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
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
Leukocyte adhesion deficiency
Lipid storage disorder
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
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Mitochondrial trifunctional protein deficiency
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase 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
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
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...
Rare diseases
(23)
Lesch-nyhan syndrome
Menkes disease
Krabbe disease
Multiple sulfatase deficiency
GM1 gangliosidoses
GM1 gangliosidoses
Farber disease
Tay-sachs disease, ab variant
Wolman disease
Niemann Pick disease
Gangliosidoses
Cholesteryl ester storage disease
GM2 gangliosidoses
Gaucher disease
Sly syndrome
Sandhoff disease
Galactosialidosis
Alexander disease
Pompe disease
Tay Sachs disease
Aspartylgl- ucosaminuria
Fucosidosis
Sarcosinemia
Alpha-mannosidosis
more...
Genetic disorders
(49)
Strumpell disease
Niemann-Pick disease, SMPD1-associated
Myotonic dystrophy
Spinocerebellar ataxia
Muscular dystrophy - Duchenne type
Muscular dystrophy - Duchenne type
Long QT syndrome type 1
Loken Senior syndrome
Spinocerebellar ataxia type-6
Krabbe disease
McArdles syndrome
Leukodystrophies
Canavan disease
Multiple sulfatase deficiency
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Adrenoleuk- odystrophy
Farber disease
Tay-sachs disease, ab variant
Wolman disease
Niemann Pick disease
Gangliosidoses
Cholesteryl ester storage disease
GM2 gangliosidoses
Batten disease
Gaucher disease
Sly syndrome
Hunter syndrome
Sandhoff disease
Mucopolysa- ccharidosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Carbamoyl phosphate synthetase I deficiency
Essential fructosuria
Galactosialidosis
Pseudo-Hurler polydystrophy
Lesch-nyhan syndrome
Alexander disease
Pompe disease
Tay Sachs disease
N-acetylglutamate synthase deficiency
Aspartylgl- ucosaminuria
Fucosidosis
Sarcosinemia
Hurler-Scheie Syndrome
Lecithin cholesterol acyltransferase deficiency
Bare lymphocyte syndrome
Glutaric acidemia type 1
Infantile neuroaxonal dystrophy
Acatalasia
Cystathioninuria
more...
Diseases and disorders
(20)
Sulfatidosis
Lymphohistiocytosis
Maroteaux-Lamy syndrome
Fructose bisphosphatase deficiency
Leukoencephalopathy with neuroaxonal spheroids
Leukoencephalopathy with neuroaxonal spheroids
Krabbe disease
Multiple sulfatase deficiency
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Farber disease
Wolman disease
Niemann Pick disease
Gangliosidoses
GM2 gangliosidoses
Mucolipidosis I
Sandhoff disease
Galactosialidosis
Tay Sachs disease
Fucosidosis
Lecithin cholesterol acyltransferase deficiency
more...
Medical condition
(56)
Leukodystrophy
Metatarsus varus
Jansky-bielschowsky disease
Sea-blue histiocyte syndrome
Sphingolipidoses
Sphingolipidoses
Pentosuria
Diffuse cerebral sclerosis
Acute biphenotypic leukemia
Lymphadenopathy angioimmunoblastic with dysproteinemia
Olivoponto- cerebellar atrophy
Storage disease
Progressive sclerosing poliodystrophy
Reticular dysgenesis
Lancereaux- -Mathieu-Weil Spirochetosis
Leiner disease
Male turner syndrome
Subcortical arteriosclerotic encephalopathy
Leri-weil syndrome
Levine-Critchley syndrome
Launois-Cleret syndrome
Marinesco sjogren syndrome
Krabbe disease
Strumpell disease
Canavan disease
Cerebrotendineous xanthomatosis
Lysosomal storage diseases
Farber disease
Sulfatidosis
Wolman disease
Cholesteryl ester storage disease
Batten disease
Gaucher disease
Mucolipidosis I
Sly syndrome
Hunter syndrome
Sandhoff disease
Lymphohistiocytosis
Mucopolysa- ccharidosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Carbamoyl phosphate synthetase I deficiency
Essential fructosuria
Myotonic dystrophy
Lesch-nyhan syndrome
Alexander disease
Pompe disease
Tay Sachs disease
Aspartylgl- ucosaminuria
Fucosidosis
Sarcosinemia
Familial dysautonomia
Menkes disease
Hurler-Scheie Syndrome
Muscular dystrophy - Duchenne type
Bare lymphocyte syndrome
Acatalasia
Long QT syndrome type 1
more...
Metabolic disorders
(59)
Inborn errors of metabolism
Lipid storage disorders
Sucrose intolerance
Activated protein C resistance
Adenosine deaminase deficiency
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
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
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
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
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Skin conditions resulting from errors in metabolism
(86)
Acute intermittent porphyria
Adrenoleuk- odystrophy
Alkaptonuria
Amyloid purpura
Amyloidosis
Amyloidosis
Apolipoprotein B deficiency
B-mannosidase deficiency
CADASIL syndrome
Calcinosis cutis
Carotenosis
Cerebrotendineous xanthomatosis
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
Hurler-Scheie 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 syndrome
Mucolipidosis 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
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...
Symptoms
Decreased muscle tone
Learning disability
Irritability
Seizure
Speech difficulties
Swallowing difficulty
Sucrose intolerance
Inborn errors of metabolism
(107)
Acid lipase deficiency
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
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 1
Glutaric acidemia type 2
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
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch-nyhan syndrome
Lipid storage disorder
Lipid storage disorders
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 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
Pompe disease
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Storage disease
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
more...
Signs and tests
(9)
Nerve biopsy
Abnormal eye movements
Coma
Computed tomography
Lumbar puncture
Lumbar puncture
Magnetic resonance imaging
Optic nerve atrophy
Urinalysis
Urine chemistry
more...
See also
(20)
Maxillofacial injury
Major depression with psychotic features
Arylsulfatase A
Sulfatide
Glycolipid
Glycolipid
Sphingolipids
Metachromatic
Cerebroside
Methylmalo- nyl-coenzyme A
Mixed disorder of acid-base balance
Prosaposin
GM2A
Luschka-Magendie foramina atresia
Myelin sheath
Enzyme replacement
Hyperchole- sterolemia, familial
Cerebellar ataxia
Hirayama syndrome
Lysosomal
Sulfatases
more...
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