Refsum Disease [Refsumova nemoc]

topical
6
Terms

Refsumova choroba
Refsumova choroba - deficit fytanoyl CoA oxidasy
Refsumův syndrom

 

Adult Refsum Disease
Classic Refsum Disease
Hemeralopia Heredoataxia Polyneuritiformis
Hereditary Motor And Sensory Neuropathy IV
Hereditary Motor and Sensory Neuropathy Type IV
Hereditary Motor and Sensory Neuropathy, Type IV
Hereditary Type IV Motor and Sensory Neuropathy
Heredopathia Atactica Polyneuritiformis
HMSN 4
HMSN IV
HMSN Type IV
Neuropathy, Hereditary Motor and Sensory, Type IV
Phytanic Acid Oxidase Deficiency
Phytanic Acid Storage Disease
Refsum Disease, Adult
Refsum Disease, Classic
Refsum Disease, Phytanic Acid Oxidase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Syndrome
Refsum-Thiebaut Syndrome
Refsum's Disease
Refsum's Syndrome

Persistent link   https://www.medvik.cz/link/D012035
Definition

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Annotation
do not confuse with REFSUM DISEASE, INFANTILE
DUI
D012035 MeSH Browser
CUI
M0018709
History note
1996 (1964)
Public note
1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990

Allowable subheadings

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

C Diseases
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
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 11
C10.228.140.163.100.365 Homocystinuria 107
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 13
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 285
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
C10.500 Nervous System Malformations 80
C10.500.300 Hereditary Sensory and Motor Neuropathy 71
C10.500.300.099 Alstrom Syndrome 1
C10.500.300.200 Charcot-Marie-Tooth Disease 159
C10.500.300.490 Giant Axonal Neuropathy 1
C10.500.300.780 Refsum Disease 6
C10.500.300.820 Spastic Paraplegia, Hereditary 23
C10.574 Neurodegenerative Diseases 641
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 71
C10.574.500.495.099 Alstrom Syndrome 1
C10.574.500.495.200 Charcot-Marie-Tooth Disease 159
C10.574.500.495.490 Giant Axonal Neuropathy 1
C10.574.500.495.780 Refsum Disease 6
C10.574.500.495.820 Spastic Paraplegia, Hereditary 23
C10.668 Neuromuscular Diseases 330
C10.668.829 Peripheral Nervous System Diseases 491
C10.668.829.800 Polyneuropathies 343
C10.668.829.800.300 Hereditary Sensory and Motor Neuropathy 71
C10.668.829.800.300.099 Alstrom Syndrome 1
C10.668.829.800.300.200 Charcot-Marie-Tooth Disease 159
C10.668.829.800.300.490 Giant Axonal Neuropathy 1
C10.668.829.800.300.780 Refsum Disease 6
C10.668.829.800.300.820 Spastic Paraplegia, Hereditary 23
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.666 Nervous System Malformations 80
C16.131.666.300 Hereditary Sensory and Motor Neuropathy 71
C16.131.666.300.099 Alstrom Syndrome 1
C16.131.666.300.200 Charcot-Marie-Tooth Disease 159
C16.131.666.300.490 Giant Axonal Neuropathy 1
C16.131.666.300.780 Refsum Disease 6
C16.131.666.300.820 Spastic Paraplegia, Hereditary 23
C16.320 Genetic Diseases, Inborn 1 213
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 71
C16.320.400.375.099 Alstrom Syndrome 1
C16.320.400.375.200 Charcot-Marie-Tooth Disease 159
C16.320.400.375.490 Giant Axonal Neuropathy 1
C16.320.400.375.780 Refsum Disease 6
C16.320.400.375.820 Spastic Paraplegia, Hereditary 23
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
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 11
C16.320.565.189.365 Homocystinuria 107
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 13
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 285
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 41
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 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
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 11
C18.452.132.100.365 Homocystinuria 107
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 13
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 285
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 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
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 11
C18.452.648.189.365 Homocystinuria 107
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 13
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 285
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 41
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

Neuropathy, hereditary motor and sensory, LOM type Disease MeSH Browser

Refsum Disease, Adult, 1 Disease MeSH Browser

Refsum Disease, Adult, 2 Disease MeSH Browser

Refsum disease with increased pipecolic acidemia Disease MeSH Browser

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