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Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
Metabolic Brain
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Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
More
Home
Disease list
Our team
Bibliography
Related apps
Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
List of Diseases
A
Abetalipoproteinemia
Aceruloplasminemia
Acute disseminated encephalomyelitis
Acute flaccid paralysis
Acute hemorrhagic encephalomyelitis
Acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Acute transverse myelitis
Adenylosuccinase deficiency
Adrenomyeloneuropathy
Adult onset autosomal dominant leukodystrophy
Aicardi-Goutieres syndrome
Alexander's disease
Allan-Herndon-Dudley syndrome
Alpers
Alpha-methylacetoacetic aciduria
Alzheimer's disease
Amyotrophic lateral sclerosis
Anti-N-methyl-D-aspartate receptor encephalitis
Antiphosholipd syndrome, Familial
Argininemia
Argininosuccinic aciduria
ARSACS
Ataxia-Oculomotor apraxia, Type 1
Ataxia-Oculomotor apraxia, Type 2
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Ataxia with vitamin E deficiency
Atypical neuroaxonal dystrophy (aNAD)
Autoimmune encephalitis
B
Bannayan Riley Ruvalcaba
Beta-Ketothiolase deficiency
Beta-propeller protein associated neurodegeneration
Biotin responsive basal ganglia disease
Biotinidase deficiency
C
CADASIL
Canavan
Carbamoyl phosphate synthetase deficiency
Carbon monoxide poisoning
Carbonic anhydrase deficiency type II
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebellar ataxia, Type 1
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Childhood hypoglycemia
Christianson
Chromosome 3p21-Herns, Cerebroretinal vasculopathy
Chromosome 6p.25
Citrullinemia
COASY protein associated neurodegeneration
Cockayne
Coenzyme Q10 deficiency
Coffin-Lowry
Complex I deficiency
Complex I deficiency secondary to NUBPL mutation
Complex II deficiency
Complex III deficiency
Complex IV deficiency
Complex V deficiency
Complex mitochondrial dysfunction with pontocerebellar hypoplasia
Congenital cytomegalovirus infection
Congenital disorder of glycosylation, type Ia
Congenital muscular dystrophy
Cowden
COXPD12
Creatine Transporter Deficiency
Cyanide poisoning
Cystathionine Beta-synthetase deficiency
Cystic leukoencephalopathy without megalencephaly
Cytotoxic lesions of the corpus callosum
D
D-2 hydroxyglutaric aciduria
D-Bifunctional protein deficiency
Dentatorubral-pallidoluysian atrophy
Dihydropyrimidine dehydrogenase deficiency
Dyskeratosis Congenita, X-linked
Dystonia with cerebellar atrophy
E
EAOH
Ectodermal dysplasia
EMPF1
Encephalomyopathy in adults
Enteroviral encephalomyelitis
Enterovirus 71
Epilepsy (BREC)
Episodic Ataxia 2
Erdheim-Chester
Ethylmalonic encephalopathy
F
FA2H
Fabry disease
Fahr
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Friedreich's ataxia
Fucosidosis
Fukuyama congenital muscular dystrophy
G
Galactosemia
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
Glutaric acidemia II
Glycogen storage disease
GM1 Gangliosidosis
GM2 Gangliosidosis
Griscelli syndrome
Guanidinoacetate methyltransferase (GAMT) deficiency
H
HDLS
Heat stroke
Hemochromatosis
Heroin inhalation
Herpes simplex encephalitis
HHHH
HIV
Hoyeraal - Hreidarsson
Huntington's
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
Hypomyelinating leukodystrophy 9
Hypomyelination with atrophy of the basal ganglia and cerebellum
Hypomyelination with brainstem & spinal cord involvement and leg spasticity
Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callos
Hypomyelination with congenital cataracts
Hypomeylination of early Myelinating Structures (HEMS)
I
IBGC1
Incontinentia pigmenti
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Infantile Refsum disease
Isovaleric acidemia
K
Kearns-Sayre
Krabbe
Kufor-Rakeb
L
L-2-hydroxyglutaric aciduria
L-arginine:glycine amidinotransferase (AGAT) deficiency
LBSL
Lead intoxication
Leber hereditary optic neuropathy (LHON)
Leukoencephalopathy with Ataxia
Leukodystrophy with Oligodontia (LO)
Leukoencephalopathy with vanishing white matter
Lipid storage disorders
Lissencephaly with cerebellar hypoplasia
Lissencephaly, X linked
Long term parenteral nutrition
LONP1 mutations
Lowe
LTBL
M
Machado Joseph
Mannosidosis
Maple syrup urine disease
Marchiafava-Bignami disease
Marinesco Sjogren
MC1DN21
Megaloencephalic leukoencephalopathy with subcortical cysts
MELAS
Menkes
Merosin-deficient congenital muscular dystrophy
MERRF
Metachromatic leukodystrophy
Methionine Adenosyltransferase deficiency
Methylbromide intoxication
Methylmalonic aciduria
Methylmalonic aciduria and Homocystinuria
Metronidazole induced encephalopathy
Mevalonic aciduria
Mitochondrial depletion
Mitochondrial disorders
Mitochondrial DNA Depletion syndrome 1
Mitochondrial DNA depletion syndrome 4A
Mitochondrial DNA Depletion syndrome 7
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial protein-associated neurodegeneration
Molybdenum cofactor deficiency
Mucolipidoses
Mucolipidosis type IV
Mucopolysaccharidoses
Multiple Acyl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Multiple sclerosis
Multiple Sulfatase deficiency
Multiple system atrophy
Muscle Eye Brain
Myo-neuro-gastrointestinal encephalopathy
Myotonic dystrophy 1
Myotonic dystrophy 2
N
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neonatal adrenoleukodystrophy
Neonatal hypoglycemia
Neurodegeneration with brain iron accumulation 2A
Neuroferritinopathy
Neurofibromatosis type 1
Neuromyelitis optica spectrum of disorders
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Niemann Pick
Non-ketotic hyperglycemia
O
Occlusive vasculopathy secondary to radiation
Oculodentodigital dysplasia
Ornithine transcarbamylase deficiency
Orthochromatic pigmentary leukodystrophy
Osmotic demyelination
P
Pantothenate kinase associated neurodegeneration
Parkinson's disease
PCWH
PEBAT
PEBEL1
PEBEL2
PEHO
Pelizaeus-Merzbacher
Pelizaeus-Merzbacher like disease
Peroxisomal acyl-CoA oxidase deficiency
Peroxisomal disorders
Peroxisomal thiolase deficiency
Peroxisome biogenesis disorder 1B
Phenylketonuria
Phosphoglycerate dehydrogenase deficiency
PLA2G6-associated Dystonia-Parkinsonism (PLAN-DP)
PLOSL1
PMPCA
Pol III related leukodystrophies
POLG - Related diseases
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 1
Pontocerebellar hypoplasia, Type 2
Pontocerebellar hypoplasia, Type 2D
Portneuf spastic ataxia
Posterior column ataxia with retinitis pigmentosa
Progressive external ophthalmoplegia, AD
Progressive external opthalmoplegia
, AR
Progressive multifocal leukoencephalopathy
Propionic aciduria
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
R
Rasmussen encephalitis
Refsum disease
Revesz
Rhizomelic chondrodysplasia punctata
Ribose 5-phosphate isomerase deficiency
S
Salla disease
SCAN2
SCO2
SENER
Sjogren-Larsson syndrome
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Spinocerebellar ataxia, Autosomal recessive 2
Spinocerebellar ataxia, X-linked
Succinate dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency
Susac syndrome
Systemic lupus erythematosus
T
Tay
Thiamine metabolism dysfunction syndrome 2
Tremor-Ataxia with central hypomyelination
(TACH)
Trichothiodystrophy leukodystrophies
Trichopoliodystrophy
Tubulinopathies
U
Unverricht Lundborg
V
Vitamin E, familial isolated deficiency of
W
Walker Warburg
Wernick-Korsakoff syndrome
Whipple disease
Wilson's disease
Wolfram
Woodhouse-Sakati
X
X-linked Adrenoleukodystrophy
Z
Zellwegger syndrome
#
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency
3-Methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
5, 10-Methylenetetrahydrofolate reductase deficiency
6p25 deletion
18 q-
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