Adrenoleukodystrophy [adrenoleukodystrofie]

topical
43
Terms

Addisonův-Schilderův komplex
adrenomyeloneuropatie
ALD
AMN
Schilderova choroba
Siemerlingova-Creutzfeldtova choroba
sudanofilní leukodystrofie
X-vázaná adrenoleukodystrofie
XALD

 

Addison Disease and Cerebral Sclerosis
Adrenomyeloneuropathy
ALD (Adrenoleukodystrophy)
Bronze Schilder Disease
Melanodermic Leukodystrophy
Schilder-Addison Complex
Siemerling-Creutzfeldt Disease
X-ALD
X-ALD (X-Linked Adrenoleukodystrophy)
X-Linked Adrenoleukodystrophy

Persistent link   https://www.medvik.cz/link/D000326
Definition

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Annotation
do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS
DUI
D000326 MeSH Browser
CUI
M0000501
Previous indexing
Adrenal Gland Hypofunction (1968-1982); Cerebral Sclerosis, Diffuse (1966-1982); Demyelinating Diseases (1966-1982)
History note
1991(1983)
Public note
1991; see CEREBRAL SCLEROSIS, DIFFUSE 1983-1990

Allowable subheadings

BL
blood 2
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 4
CO
complications 1
DI
diagnosis 21
DG
diagnostic imaging 2
DH
diet therapy 2
DT
drug therapy 2
EC
economics 1
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 3
GE
genetics 23
HI
history
IM
immunology
ME
metabolism 3
MI
microbiology
MO
mortality
NU
nursing 1
PS
parasitology
PA
pathology 5
PP
physiopathology 6
PC
prevention & control
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery 1
TH
therapy 13
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.084 Adrenoleukodystrophy 43
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C10.228.140.163.100.362.250 Adrenoleukodystrophy 43
C10.228.140.163.100.362.312 Alexander Disease 6
C10.228.140.163.100.362.375 Canavan Disease 9
C10.228.140.163.100.362.500 Leukodystrophy, Globoid Cell 17
C10.228.140.163.100.362.550 Leukodystrophy, Metachromatic 30
C10.228.140.163.100.362.775 Pelizaeus-Merzbacher Disease 11
C10.228.140.163.100.365 Homocystinuria 108
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 286
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C10.228.140.695 Leukoencephalopathies 12
C10.228.140.695.625 Hereditary Central Nervous System Demyelinating Diseases 12
C10.228.140.695.625.250 Adrenoleukodystrophy 43
C10.228.140.695.625.312 Alexander Disease 6
C10.228.140.695.625.375 Canavan Disease 9
C10.228.140.695.625.500 Leukodystrophy, Globoid Cell 17
C10.228.140.695.625.550 Leukodystrophy, Metachromatic 30
C10.228.140.695.625.775 Pelizaeus-Merzbacher Disease 11
C10.314 Demyelinating Diseases 307
C10.314.400 Hereditary Central Nervous System Demyelinating Diseases 12
C10.314.400.250 Adrenoleukodystrophy 43
C10.314.400.312 Alexander Disease 6
C10.314.400.375 Canavan Disease 9
C10.314.400.500 Leukodystrophy, Globoid Cell 17
C10.314.400.550 Leukodystrophy, Metachromatic 30
C10.314.400.775 Pelizaeus-Merzbacher Disease 11
C10.597 Neurologic Manifestations 1 055
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 048
C10.597.606.360.455 X-Linked Intellectual Disability 18
C10.597.606.360.455.124 Adrenoleukodystrophy 43
C10.597.606.360.455.249 Coffin-Lowry Syndrome
C10.597.606.360.455.500 Fragile X Syndrome 63
C10.597.606.360.455.562 Glycogen Storage Disease Type IIb 11
C10.597.606.360.455.625 Lesch-Nyhan Syndrome 20
C10.597.606.360.455.687 Menkes Kinky Hair Syndrome 12
C10.597.606.360.455.750 Mucopolysaccharidosis II 25
C10.597.606.360.455.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.597.606.360.455.937 Rett Syndrome 53
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.500.124 Adrenoleukodystrophy 43
C16.320.322.500.186 Classical Lissencephalies and Subcortical Band Heterotopias 2
C16.320.322.500.249 Coffin-Lowry Syndrome
C16.320.322.500.500 Fragile X Syndrome 63
C16.320.322.500.625 Lesch-Nyhan Syndrome 20
C16.320.322.500.687 Menkes Kinky Hair Syndrome 12
C16.320.322.500.750 Mucopolysaccharidosis II 25
C16.320.322.500.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.322.500.937 Rett Syndrome 53
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.400.525 X-Linked Intellectual Disability 18
C16.320.400.525.124 Adrenoleukodystrophy 43
C16.320.400.525.249 Coffin-Lowry Syndrome
C16.320.400.525.500 Fragile X Syndrome 63
C16.320.400.525.625 Lesch-Nyhan Syndrome 20
C16.320.400.525.687 Menkes Kinky Hair Syndrome 12
C16.320.400.525.750 Mucopolysaccharidosis II 25
C16.320.400.525.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.400.525.937 Rett Syndrome 53
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.084 Adrenoleukodystrophy 43
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C16.320.565.189.362.250 Adrenoleukodystrophy 43
C16.320.565.189.362.312 Alexander Disease 6
C16.320.565.189.362.375 Canavan Disease 9
C16.320.565.189.362.500 Leukodystrophy, Globoid Cell 17
C16.320.565.189.362.550 Leukodystrophy, Metachromatic 30
C16.320.565.189.362.775 Pelizaeus-Merzbacher Disease 11
C16.320.565.189.365 Homocystinuria 108
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 286
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.663.050 Acatalasia 3
C16.320.565.663.100 Adrenoleukodystrophy 43
C16.320.565.663.265 Chondrodysplasia Punctata, Rhizomelic
C16.320.565.663.430 Mevalonate Kinase Deficiency 16
C16.320.565.663.760 Refsum Disease 6
C16.320.565.663.865 Refsum Disease, Infantile
C16.320.565.663.970 Zellweger Syndrome 10
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.084 Adrenoleukodystrophy 43
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.132.100.362.250 Adrenoleukodystrophy 43
C18.452.132.100.362.312 Alexander Disease 6
C18.452.132.100.362.375 Canavan Disease 9
C18.452.132.100.362.500 Leukodystrophy, Globoid Cell 17
C18.452.132.100.362.550 Leukodystrophy, Metachromatic 30
C18.452.132.100.362.775 Pelizaeus-Merzbacher Disease 11
C18.452.132.100.365 Homocystinuria 108
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 286
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.084 Adrenoleukodystrophy 43
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.648.189.362.250 Adrenoleukodystrophy 43
C18.452.648.189.362.312 Alexander Disease 6
C18.452.648.189.362.375 Canavan Disease 9
C18.452.648.189.362.500 Leukodystrophy, Globoid Cell 17
C18.452.648.189.362.550 Leukodystrophy, Metachromatic 30
C18.452.648.189.362.775 Pelizaeus-Merzbacher Disease 11
C18.452.648.189.365 Homocystinuria 108
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 286
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.663.050 Acatalasia 3
C18.452.648.663.100 Adrenoleukodystrophy 43
C18.452.648.663.265 Chondrodysplasia Punctata, Rhizomelic
C18.452.648.663.430 Mevalonate Kinase Deficiency 16
C18.452.648.663.760 Refsum Disease 6
C18.452.648.663.865 Refsum Disease, Infantile
C18.452.648.663.970 Zellweger Syndrome 10
C19 Endocrine System Diseases 887
C19.053 Adrenal Gland Diseases 115
C19.053.500 Adrenal Insufficiency 113
C19.053.500.263 Addison Disease 129
C19.053.500.270 Adrenoleukodystrophy 43
C19.053.500.480 Hypoaldosteronism 7
C19.053.500.740 Waterhouse-Friderichsen Syndrome 11

Peroxisomal ACYL-COA oxidase deficiency Disease MeSH Browser

Wells Jankovic syndrome Disease MeSH Browser

Back Add