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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
Autosomal recessive disorders
(19)
McArdles syndrome
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Multiple sulfatase deficiency
Batten disease
Batten disease
Gaucher disease
Gangliosidoses
Sly syndrome
Farber disease
Niemann Pick disease
Tay Sachs disease
Wolman disease
MPS I
Infantile neuroaxonal dystrophy
Hurler-Scheie Syndrome
Pompe disease
Sandhoff disease
Krabbe disease
Canavan disease
more...
Lysosomal storage diseases
(39)
Cholesteryl ester storage disease
Fabry disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Galactosialidosis
Mucolipidosis II
Schindler disease
Sialidosis
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cystinosis
Farber disease
Gangliosidoses
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler-Scheie Syndrome
Krabbe disease
Lipid storage disorder
Lysosomal storage disease
MPS I
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Rare diseases
(22)
Multiple system atrophy
Menkes syndrome
Mowat-Wilson syndrome
Tay-sachs disease, ab variant
Multiple sulfatase deficiency
Multiple sulfatase deficiency
GM1 gangliosidoses
Gaucher disease
GM2 gangliosidoses
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Farber disease
Galactosialidosis
Niemann Pick disease
Krabbe disease
Fabry disease
Alexander disease
Tay Sachs disease
Wolman disease
Pompe disease
Sandhoff disease
Schindler disease
more...
Genetic disorders
(39)
Niemann-Pick disease, SMPD1-associated
Jansky-bielschowsky disease
Spinocerebellar ataxia
Muenke syndrome
Muscular dystrophy - Duchenne type
Muscular dystrophy - Duchenne type
Myotonic dystrophy
Refractory anemia with ringed sideroblasts
22q13
Spinal muscular atrophy
Episodic ataxia
McArdles syndrome
Adrenoleuk- odystrophy
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Multiple sulfatase deficiency
GM1 gangliosidoses
Batten disease
Gaucher disease
GM2 gangliosidoses
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Farber disease
Leukodystrophies
Galactosialidosis
Niemann Pick disease
Krabbe disease
Fabry disease
Alexander disease
Tay Sachs disease
Wolman disease
MPS I
Infantile neuroaxonal dystrophy
Hurler-Scheie Syndrome
Pompe disease
Canavan disease
Sandhoff disease
Schindler disease
Mowat-Wilson syndrome
more...
Diseases and disorders
(65)
Mesangiocapillary glomerulonephritis
Leukodystrophy
Mammary dysplasia
Sulfatidosis
Sea-blue histiocyte syndrome
Sea-blue histiocyte syndrome
Malignant melanoma
Lymphohistiocytosis
Reticular dysgenesis
Acute biphenotypic leukemia
Myelofibrosis
Progressive sclerosing poliodystrophy
Sphingolipidoses
Neurological disorders
Diffuse cerebral sclerosis
Hypotonia
Melnick-needles syndrome
Phytanic acid storage disease
Multiple hamartoma syndrome
Moebius syndrome
Dysmyelination
Male turner syndrome
Infant botulism
Kernicterus
Marinesco sjogren syndrome
Demyelination
Leukemia
Morvan disease
Megalencephaly
Moersch-woltmann syndrome
Mayer-Roki- tansky-Kuster-Hauser syndrome
Malignant atrophic papulosis
Leukemia, hairy cell
Cerebrotendineous xanthomatosis
Multiple sulfatase deficiency
GM1 gangliosidoses
Jansky-bielschowsky disease
Batten disease
Gaucher disease
GM2 gangliosidoses
Gangliosidoses
Cholesteryl ester storage disease
Sly syndrome
Lysosomal storage diseases
Farber disease
Galactosialidosis
Niemann Pick disease
Krabbe disease
Muenke syndrome
Sialidosis
Fabry disease
Alexander disease
Tay Sachs disease
Wolman disease
MPS I
Muscular dystrophy - Duchenne type
Myotonic dystrophy
Refractory anemia with ringed sideroblasts
Hurler-Scheie Syndrome
Pompe disease
Canavan disease
Multiple system atrophy
Sandhoff disease
Menkes syndrome
Schindler disease
Spinal muscular atrophy
more...
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
more...
Neurology
(9)
Myoclonic Encephalopathy of infants
Ramsay Hunt syndrome type I
Adrenoleuk- odystrophy
Niemann Pick disease
Neurological disorders
Neurological disorders
Tay Sachs disease
Myotonic dystrophy
Kernicterus
Demyelination
more...
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
more...
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
more...
See also
(20)
Maxillofacial injury
Major depression with psychotic features
Medial collateral ligament
Arylsulfatase A
Sphingolipids
Sphingolipids
Metachromatic
Sulfatide
Lysosomal
Enzyme replacement therapy
Hirayama syndrome
Refractory anemia with excess blasts in transformation
Prosaposin
GM2A
Myelin
Cerebroside
Hematopoietic stem cell transplantation
Royal Scottish Academy
Enzyme
Genetic counseling
The Myelin Project
more...
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